<?xml version="1.0" encoding="ISO-8859-1"?><article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance">
<front>
<journal-meta>
<journal-id>1665-1146</journal-id>
<journal-title><![CDATA[Boletín médico del Hospital Infantil de México]]></journal-title>
<abbrev-journal-title><![CDATA[Bol. Med. Hosp. Infant. Mex.]]></abbrev-journal-title>
<issn>1665-1146</issn>
<publisher>
<publisher-name><![CDATA[Instituto Nacional de Salud, Hospital Infantil de México Federico Gómez]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1665-11462020000400212</article-id>
<article-id pub-id-type="doi">10.24875/bmhim.19000209</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Displasia ectodérmica hipohidrótica ligada al cromosoma X de novo por variante recurrente en un paciente mexicano]]></article-title>
<article-title xml:lang="en"><![CDATA[X-linked hypohidrotic ectodermal dysplasia by a de novo recurrent variant in a Mexican patient]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Noriega-Juárez]]></surname>
<given-names><![CDATA[Miguel A.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[García-Delgado]]></surname>
<given-names><![CDATA[Constanza]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Villaseñor-Domínguez]]></surname>
<given-names><![CDATA[América]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Mena-Cedillos]]></surname>
<given-names><![CDATA[Carlos A.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Toledo-Bahena]]></surname>
<given-names><![CDATA[Mirna]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Valencia-Herrera]]></surname>
<given-names><![CDATA[Adriana]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Baeza-Capetillo]]></surname>
<given-names><![CDATA[Patricia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Cervantes]]></surname>
<given-names><![CDATA[Alicia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Morán-Barroso]]></surname>
<given-names><![CDATA[Verónica F.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Monroy-Jaramillo]]></surname>
<given-names><![CDATA[Nancy]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Hospital Infantil de México Federico Gómez Departamento de Genética ]]></institution>
<addr-line><![CDATA[Ciudad de México ]]></addr-line>
<country>Mexico</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Hospital Infantil de México Federico Gómez Departamento de Dermatología ]]></institution>
<addr-line><![CDATA[Ciudad de México ]]></addr-line>
<country>Mexico</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Universidad Nacional Autónoma de México Facultad de Medicina ]]></institution>
<addr-line><![CDATA[Ciudad de México ]]></addr-line>
<country>Mexico</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez Departamento de Genética ]]></institution>
<addr-line><![CDATA[Ciudad de México ]]></addr-line>
<country>Mexico</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>08</month>
<year>2020</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>08</month>
<year>2020</year>
</pub-date>
<volume>77</volume>
<numero>4</numero>
<fpage>212</fpage>
<lpage>217</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_arttext&amp;pid=S1665-11462020000400212&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_abstract&amp;pid=S1665-11462020000400212&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_pdf&amp;pid=S1665-11462020000400212&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen  Introducción: Las displasias ectodérmicas son un grupo de genodermatosis que se caracterizan por distrofia de las estructuras derivadas del ectodermo. De ellas, la variedad más común es la hipohidrótica, con una incidencia de 7/100,000 nacidos vivos observada en todos los grupos étnicos. La displasia ectodérmica hipohidrótica tiene distintas etiologías. La presentación más frecuente es la asociada a un patrón de herencia ligado al cromosoma X, causada por variantes patogénicas del gen EDA en Xq13.1. EDA codifica a la ectodisplasina A, una molécula de señalización que participa en la comunicación epitelio-mesénquima durante el desarrollo de la piel y los anexos.  Caso clínico: Varón de 6 años con las características clínicas cardinales de la displasia ectodérmica hipohidrótica ligada al cromosoma X (DEHLX), que incluyen hipotricosis, oligodoncia e hipohidrosis. El análisis del gen EDA por secuenciación directa mostró la presencia de la variante patogénica c.466C&gt;T, p.Arg156Cys, rs132630313 con presentación de novo en el paciente. Esta variante ya ha sido reportada en diferentes poblaciones, incluyendo familias mexicanas, y constituye un punto caliente para mutación en EDA. Se analizaron los hallazgos clínicos, la etiología y el manejo de la DEHLX, en la que de manera reciente se ha planteado la posibilidad de otorgar tratamiento prenatal para prevenir sus manifestaciones clínicas.  Conclusiones: Se pone de relevancia que el análisis molecular en pacientes con DEHLX corrobora el diagnóstico clínico y permite brindar asesoramiento genético con bases moleculares.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Background: Ectodermal dysplasias are a group of genodermatoses characterized by dystrophy of ectodermal derived structures. The most frequent presentation of the ectodermal dysplasias is the hypohidrotic type, which has an incidence of 7/100,000 newborns and has been described in all ethnic groups. The hypohidrotic ectodermal dysplasia (HED) has different etiologies, and it is more frequently associated with an X-linked pattern of inheritance caused by pathogenic variants of the EDA gene in Xq13.1. EDA encodes the protein ectodisplasin A, a signal molecule which participates in epithelium and mesenchymal development of the skin.  Case report: A 6 year-old male patient with the main clinical characteristics of the X-linked HED including hypotrichosis, hypodontia and hypohidrosis. The direct sequencing analysis of EDA in our patient detected a de novo pathogenic variant, c.466C&gt;T, p.Arg156Cys, rs132630313. This variant has been previously described in different ethnic groups, including Mexican families, and is considered a mutational hotspot. The clinical characteristics, etiology and management of the X-linked HED, including the possibility of prenatal therapy in order to avoid the clinical manifestations are discussed.  Conclusions: The molecular analysis in patients with X-linked HED is of relevance, as it enables to confirm the clinical diagnosis and also, it allows a genetic assessment with molecular bases.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Displasia ectodérmica hipohidrótica ligada al X]]></kwd>
<kwd lng="es"><![CDATA[Gen EDA]]></kwd>
<kwd lng="es"><![CDATA[Genodermatosis]]></kwd>
<kwd lng="en"><![CDATA[X-linked hypohidrotic ectodermal dysplasia]]></kwd>
<kwd lng="en"><![CDATA[EDA gene]]></kwd>
<kwd lng="en"><![CDATA[Genodermatoses]]></kwd>
</kwd-group>
</article-meta>
</front><back>
<ref-list>
<ref id="B1">
<label>1</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Pagnan]]></surname>
<given-names><![CDATA[NA]]></given-names>
</name>
<name>
<surname><![CDATA[Visinoni]]></surname>
<given-names><![CDATA[AF]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Update on ectodermal dysplasias clinical classification]]></article-title>
<source><![CDATA[Am J Med Genet A]]></source>
<year>2014</year>
<volume>164A</volume>
<page-range>2415-23</page-range></nlm-citation>
</ref>
<ref id="B2">
<label>2</label><nlm-citation citation-type="book">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Wright]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Grange]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Richter]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Hypohidrotic ectodermal dysplasia]]></article-title>
<person-group person-group-type="editor">
<name>
<surname><![CDATA[Adam]]></surname>
<given-names><![CDATA[MP]]></given-names>
</name>
</person-group>
<source><![CDATA[Gene reviews]]></source>
<year>2019</year>
<publisher-loc><![CDATA[Seattle ]]></publisher-loc>
<publisher-name><![CDATA[University of Washington]]></publisher-name>
</nlm-citation>
</ref>
<ref id="B3">
<label>3</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Visinoni]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Lisboa-Costa]]></surname>
<given-names><![CDATA[TP]]></given-names>
</name>
<name>
<surname><![CDATA[Pagnan]]></surname>
<given-names><![CDATA[NA]]></given-names>
</name>
<name>
<surname><![CDATA[Chautard-Freire-Maia]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Ectodermal dysplasias:clinical and molecular review]]></article-title>
<source><![CDATA[Am J Med Genet A]]></source>
<year>2009</year>
<volume>149A</volume>
<page-range>1980-2002</page-range></nlm-citation>
</ref>
<ref id="B4">
<label>4</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Cambiaghi]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Restano]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Paäkkönen]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Caputo]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Kere]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Clinical findings in mosaic carriers of hypohidrotic ectodermal dysplasia]]></article-title>
<source><![CDATA[Arch Dermatol]]></source>
<year>2000</year>
<volume>136</volume>
<page-range>217-24</page-range></nlm-citation>
</ref>
<ref id="B5">
<label>5</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Monroy-Jaramillo]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Abad-Flores]]></surname>
<given-names><![CDATA[JD]]></given-names>
</name>
<name>
<surname><![CDATA[García-Delgado]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Villaseñor-Domíngez]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Mena-Cedillos]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Toledo-Bahena]]></surname>
<given-names><![CDATA[ME]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Mutational spectrum of EDA and EDAR genes in a cohort of Mexican mestizo patients with hypohidrotic ectodermal dysplasia]]></article-title>
<source><![CDATA[J Eur Acad Dermatol Venereol]]></source>
<year>2017</year>
<volume>31</volume>
<page-range>e321-4</page-range></nlm-citation>
</ref>
<ref id="B6">
<label>6</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Monreal]]></surname>
<given-names><![CDATA[AW]]></given-names>
</name>
<name>
<surname><![CDATA[Zonana]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Ferguson]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations]]></article-title>
<source><![CDATA[Am J Hum Genet]]></source>
<year>1998</year>
<volume>63</volume>
<page-range>380-9</page-range></nlm-citation>
</ref>
<ref id="B7">
<label>7</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Cluzeau]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Hadj-Rabia]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Jambou]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Mansour]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Guigue]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Masmoudi]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Only four genes (EDA1, EDAR, EDARADD and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases]]></article-title>
<source><![CDATA[Hum Mutat]]></source>
<year>2011</year>
<volume>32</volume>
<page-range>70-7</page-range></nlm-citation>
</ref>
<ref id="B8">
<label>8</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Burger]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Schneider]]></surname>
<given-names><![CDATA[AT]]></given-names>
</name>
<name>
<surname><![CDATA[Wohlfart]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Kiesewetter]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Huttner]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Johnson]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Genotype–phenotype correlation in boys with X-linked hypohidrotic ectodermal dysplasia]]></article-title>
<source><![CDATA[Am J Med Genet A]]></source>
<year>2014</year>
<volume>164A</volume>
<page-range>2424-32</page-range></nlm-citation>
</ref>
<ref id="B9">
<label>9</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Salas-Alanis]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Wozniak]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Mein]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Duran-McKinster]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Ocampo-Candiani]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Kelsell]]></surname>
<given-names><![CDATA[DP]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Mutations in EDA and EDAR genes in a large Mexican Hispanic cohort with hypohidrotic ectodermal dysplasia]]></article-title>
<source><![CDATA[Ann Dermatol]]></source>
<year>2015</year>
<volume>27</volume>
<page-range>474-7</page-range></nlm-citation>
</ref>
<ref id="B10">
<label>10</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Bergendal]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Orodental manifestations in ectodermal dysplasia —a review]]></article-title>
<source><![CDATA[Am J Med Genet A]]></source>
<year>2014</year>
<volume>164A</volume>
<page-range>2465-71</page-range></nlm-citation>
</ref>
<ref id="B11">
<label>11</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Reyes-Reali]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Mendoza-Ramos]]></surname>
<given-names><![CDATA[MI]]></given-names>
</name>
<name>
<surname><![CDATA[Garrido-Guerrero]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Méndez-Catalá]]></surname>
<given-names><![CDATA[CF]]></given-names>
</name>
<name>
<surname><![CDATA[Méndez-Cruz]]></surname>
<given-names><![CDATA[AR]]></given-names>
</name>
<name>
<surname><![CDATA[Pozo-Molina]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Hypohidrotic ectodermal dysplasia:clinical and molecular review]]></article-title>
<source><![CDATA[Int J Dermatol]]></source>
<year>2018</year>
<volume>57</volume>
<page-range>965-72</page-range></nlm-citation>
</ref>
<ref id="B12">
<label>12</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Dobyns]]></surname>
<given-names><![CDATA[W]]></given-names>
</name>
<name>
<surname><![CDATA[Filauro]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Tomson]]></surname>
<given-names><![CDATA[BN]]></given-names>
</name>
<name>
<surname><![CDATA[Chan]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Ho]]></surname>
<given-names><![CDATA[AW]]></given-names>
</name>
<name>
<surname><![CDATA[Ting]]></surname>
<given-names><![CDATA[NT]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Inheritance of most X-linked traits is not dominant or recessive, just X-linked]]></article-title>
<source><![CDATA[Am J Med Genet A]]></source>
<year>2004</year>
<volume>129A</volume>
<page-range>136-43</page-range></nlm-citation>
</ref>
<ref id="B13">
<label>13</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Martínez-Romero]]></surname>
<given-names><![CDATA[MC]]></given-names>
</name>
<name>
<surname><![CDATA[Ballesta-Martínez]]></surname>
<given-names><![CDATA[MJ]]></given-names>
</name>
<name>
<surname><![CDATA[López-González]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
<name>
<surname><![CDATA[Sánchez-Soler]]></surname>
<given-names><![CDATA[MJ]]></given-names>
</name>
<name>
<surname><![CDATA[Serrano-Antón]]></surname>
<given-names><![CDATA[AT]]></given-names>
</name>
<name>
<surname><![CDATA[Barreda-Sánchez]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population]]></article-title>
<source><![CDATA[Orphanet J Rare Dis]]></source>
<year>2019</year>
<volume>14</volume>
<page-range>1-10</page-range></nlm-citation>
</ref>
<ref id="B14">
<label>14</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Fete]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Hermann]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Behrens]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Huttner]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[X-linked hypohidrotic ectodermal dysplasia (XLHED):clinical and diagnostic insights from an international patient registry]]></article-title>
<source><![CDATA[Am J Med Genet A]]></source>
<year>2014</year>
<volume>164A</volume>
<page-range>2437-42</page-range></nlm-citation>
</ref>
<ref id="B15">
<label>15</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Sadier]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Viriot]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Pantalacci]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Laudet]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[The ectodysplasin pathway:from diseases to adaptations]]></article-title>
<source><![CDATA[Trends Genet]]></source>
<year>2014</year>
<volume>30</volume>
<page-range>24-31</page-range></nlm-citation>
</ref>
<ref id="B16">
<label>16</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Nascimento De Aquino]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Ribeiro Paranaíba]]></surname>
<given-names><![CDATA[LM]]></given-names>
</name>
<name>
<surname><![CDATA[Oliveira Swerts]]></surname>
<given-names><![CDATA[MS]]></given-names>
</name>
<name>
<surname><![CDATA[Barbosa Martelli]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Monteiro de Barros]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Martelli Júnior]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Orofacial features of hypohidrotic ectodermal dysplasia]]></article-title>
<source><![CDATA[Head Neck Pathol]]></source>
<year>2012</year>
<volume>6</volume>
<page-range>460-6</page-range></nlm-citation>
</ref>
<ref id="B17">
<label>17</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Motil]]></surname>
<given-names><![CDATA[KJ]]></given-names>
</name>
<name>
<surname><![CDATA[Fete]]></surname>
<given-names><![CDATA[TJ]]></given-names>
</name>
<name>
<surname><![CDATA[Fraley]]></surname>
<given-names><![CDATA[JK]]></given-names>
</name>
<name>
<surname><![CDATA[Schultz]]></surname>
<given-names><![CDATA[RJ]]></given-names>
</name>
<name>
<surname><![CDATA[Foy]]></surname>
<given-names><![CDATA[TM]]></given-names>
</name>
<name>
<surname><![CDATA[Ochs]]></surname>
<given-names><![CDATA[U]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Growth characteristics of children with ectodermal dysplasia syndromes]]></article-title>
<source><![CDATA[Pediatrics]]></source>
<year>2005</year>
<volume>116</volume>
<page-range>e229-34</page-range></nlm-citation>
</ref>
<ref id="B18">
<label>18</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Wohlfart]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Meiller]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Hammersen]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Park]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Menzel-Severing]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Melichar]]></surname>
<given-names><![CDATA[VO]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Natural history of X-linked hypohidrotic ectodermal dysplasia:a 5-year follow-up study]]></article-title>
<source><![CDATA[Orphanet J Rare Dis]]></source>
<year>2020</year>
<volume>15</volume>
<page-range>1-11</page-range></nlm-citation>
</ref>
<ref id="B19">
<label>19</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Bayés]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Hartung]]></surname>
<given-names><![CDATA[AJ]]></given-names>
</name>
<name>
<surname><![CDATA[Ezer]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Pispa]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Thesleff]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
<name>
<surname><![CDATA[Srivastava]]></surname>
<given-names><![CDATA[AK]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats]]></article-title>
<source><![CDATA[Hum Mol Genet]]></source>
<year>1998</year>
<volume>7</volume>
<page-range>1661-9</page-range></nlm-citation>
</ref>
<ref id="B20">
<label>20</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Chen]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Molloy]]></surname>
<given-names><![CDATA[SS]]></given-names>
</name>
<name>
<surname><![CDATA[Thomas]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Gambee]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Bächinger]]></surname>
<given-names><![CDATA[HP]]></given-names>
</name>
<name>
<surname><![CDATA[Ferguson]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia]]></article-title>
<source><![CDATA[Proc Natl Acad Sci U S A]]></source>
<year>2001</year>
<volume>98</volume>
<page-range>7218-23</page-range></nlm-citation>
</ref>
<ref id="B21">
<label>21</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Margolis]]></surname>
<given-names><![CDATA[CA]]></given-names>
</name>
<name>
<surname><![CDATA[Schneider]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Huttner]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Kirby]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Houser]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Wildman]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Prenatal treatment of X-linked hypohidrotic ectodermal dysplasia using recombinant ectodysplasin in a canine model]]></article-title>
<source><![CDATA[J Pharmacol Exp Ther]]></source>
<year>2019</year>
<volume>370</volume>
<page-range>806-13</page-range></nlm-citation>
</ref>
<ref id="B22">
<label>22</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Kowalczyk-Quintas]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Schneider]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Ectodysplasin A (EDA)–EDA receptor signalling and its pharmacological modulation]]></article-title>
<source><![CDATA[Cytokine Growth Factor Rev]]></source>
<year>2014</year>
<volume>25</volume>
<page-range>195-203</page-range></nlm-citation>
</ref>
<ref id="B23">
<label>23</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Garcin]]></surname>
<given-names><![CDATA[CL]]></given-names>
</name>
<name>
<surname><![CDATA[Huttner]]></surname>
<given-names><![CDATA[KM]]></given-names>
</name>
<name>
<surname><![CDATA[Kirby]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Schneider]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Hardman]]></surname>
<given-names><![CDATA[MJ]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Ectodysplasin A pathway contributes to human and murine skin repair]]></article-title>
<source><![CDATA[J Invest Dermatol]]></source>
<year>2016</year>
<volume>136</volume>
<page-range>1022-30</page-range></nlm-citation>
</ref>
<ref id="B24">
<label>24</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Savasta]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Carlone]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Castagnoli]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Chiappe]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Bassanese]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Piras]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[X-linked hypohidrotic ectodermal dysplasia:new features and a novel EDA gene mutation]]></article-title>
<source><![CDATA[Cytogenet Genome Res]]></source>
<year>2017</year>
<volume>152</volume>
<page-range>111-6</page-range></nlm-citation>
</ref>
<ref id="B25">
<label>25</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Han]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Wang]]></surname>
<given-names><![CDATA[X]]></given-names>
</name>
<name>
<surname><![CDATA[Zheng]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Zhu]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Li]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Hong]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Pathogenic EDA mutations in Chinese Han families with hypohidrotic ectodermal dysplasia and genotype-phenotype:a correlation analysis]]></article-title>
<source><![CDATA[Front Genet]]></source>
<year>2020</year>
<volume>11</volume>
<page-range>1-11</page-range></nlm-citation>
</ref>
<ref id="B26">
<label>26</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Gaczkowska]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Abdalla]]></surname>
<given-names><![CDATA[EM]]></given-names>
</name>
<name>
<surname><![CDATA[Dowidar]]></surname>
<given-names><![CDATA[KM]]></given-names>
</name>
<name>
<surname><![CDATA[Elhady]]></surname>
<given-names><![CDATA[GM]]></given-names>
</name>
<name>
<surname><![CDATA[Jagodzinski]]></surname>
<given-names><![CDATA[PP]]></given-names>
</name>
<name>
<surname><![CDATA[Mostowska]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[De novo EDA mutations:variable expression in two Egyptian families]]></article-title>
<source><![CDATA[Arch Oral Biol]]></source>
<year>2016</year>
<volume>68</volume>
<page-range>21-8</page-range></nlm-citation>
</ref>
<ref id="B27">
<label>27</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Zonana]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Jones]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Clarke]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Gault]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Muller]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
<name>
<surname><![CDATA[Thomas]]></surname>
<given-names><![CDATA[NS]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Detection of de novo mutations and analysis of their origin in families with X-linked hypohidrotic ectodermal dysplasia]]></article-title>
<source><![CDATA[J Med Genet]]></source>
<year>1994</year>
<volume>31</volume>
<page-range>287-92</page-range></nlm-citation>
</ref>
<ref id="B28">
<label>28</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Freire-Maia]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Pinheiro]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Carrier detection in Christ-Siemens-Touraine Syndrome (X-linked hypohidrotic ectodermal dysplasia)]]></article-title>
<source><![CDATA[Am J Hum Genet]]></source>
<year>1982</year>
<volume>34</volume>
<page-range>672-4</page-range></nlm-citation>
</ref>
<ref id="B29">
<label>29</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Yin]]></surname>
<given-names><![CDATA[W]]></given-names>
</name>
<name>
<surname><![CDATA[Ye]]></surname>
<given-names><![CDATA[X]]></given-names>
</name>
<name>
<surname><![CDATA[Fan]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Bian]]></surname>
<given-names><![CDATA[Z]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Methylation state of the EDA gene promoter in Chinese X-linked hypohidrotic ectodermal dysplasia carriers]]></article-title>
<source><![CDATA[PLoS One]]></source>
<year>2013</year>
<volume>8</volume>
<page-range>1-8</page-range></nlm-citation>
</ref>
<ref id="B30">
<label>30</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Anbouba]]></surname>
<given-names><![CDATA[GM]]></given-names>
</name>
<name>
<surname><![CDATA[Carmany]]></surname>
<given-names><![CDATA[EP]]></given-names>
</name>
<name>
<surname><![CDATA[Natoli]]></surname>
<given-names><![CDATA[JL]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[The characterization of hypodontia, hypohidrosis, and hypotrichosis associated with X-linked hypohidrotic ectodermal dysplasia:a systematic review]]></article-title>
<source><![CDATA[Am J Med Genet A]]></source>
<year>2020</year>
<volume>182</volume>
<page-range>831-41</page-range></nlm-citation>
</ref>
<ref id="B31">
<label>31</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Hammersen]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Wohlfart]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Goecke]]></surname>
<given-names><![CDATA[TW]]></given-names>
</name>
<name>
<surname><![CDATA[Köninger]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Stepan]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Gallinat]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Reliability of prenatal detection of X-linked hypohidrotic ectodermal dysplasia by tooth germ sonography]]></article-title>
<source><![CDATA[Prenat Diagn]]></source>
<year>2019</year>
<volume>39</volume>
<page-range>796-805</page-range></nlm-citation>
</ref>
<ref id="B32">
<label>32</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Gaide]]></surname>
<given-names><![CDATA[O]]></given-names>
</name>
<name>
<surname><![CDATA[Schneider]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Permanent correction of an inherited ectodermal dysplasia with recombinant EDA]]></article-title>
<source><![CDATA[Nat Med]]></source>
<year>2003</year>
<volume>9</volume>
<page-range>614-8</page-range></nlm-citation>
</ref>
<ref id="B33">
<label>33</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Mauldin]]></surname>
<given-names><![CDATA[EA]]></given-names>
</name>
<name>
<surname><![CDATA[Gaide]]></surname>
<given-names><![CDATA[O]]></given-names>
</name>
<name>
<surname><![CDATA[Schneider]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Casal]]></surname>
<given-names><![CDATA[ML]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Neonatal treatment with recombinant ectodysplasin prevents respiratory disease in dogs with X-linked ectodermal dysplasia]]></article-title>
<source><![CDATA[Am J Med Genet A]]></source>
<year>2009</year>
<volume>149A</volume>
<page-range>2045-9</page-range></nlm-citation>
</ref>
<ref id="B34">
<label>34</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Hermes]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Schneider]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Krieg]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Dang]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Huttner]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Schneider]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Prenatal therapy in developmental disorders:drug targeting via intra-amniotic injection to treat X-linked hypohidrotic ectodermal dysplasia]]></article-title>
<source><![CDATA[J Invest Dermatol]]></source>
<year>2014</year>
<volume>134</volume>
<page-range>2985-7</page-range></nlm-citation>
</ref>
<ref id="B35">
<label>35</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Schneider]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Faschingbauer]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Schuepbach-Mallepell]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Körber]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
<name>
<surname><![CDATA[Wohlfart]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Dick]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Prenatal correction of X-linked hypohidrotic ectodermal dysplasia]]></article-title>
<source><![CDATA[N Engl J Med]]></source>
<year>2018</year>
<volume>378</volume>
<page-range>1604-10</page-range></nlm-citation>
</ref>
</ref-list>
</back>
</article>
