<?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>S1665-11462018000500287</article-id>
<article-id pub-id-type="doi">10.24875/bmhim.m18000035</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Hallazgos clínicos y epidemiológicos en la neurofibromatosis tipo 1 y el complejo esclerosis tuberosa en una serie de pacientes pediátricos]]></article-title>
<article-title xml:lang="en"><![CDATA[Clinical and epidemiological findings in neurofibromatosis type 1 and tuberous sclerosis complex in a series of pediatric patients]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Cammarata-Scalisi]]></surname>
<given-names><![CDATA[Francisco]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Stock]]></surname>
<given-names><![CDATA[Frances]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Velazco]]></surname>
<given-names><![CDATA[Nicole]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Silva]]></surname>
<given-names><![CDATA[Gloria Da]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Lacruz-Rengel]]></surname>
<given-names><![CDATA[María Angelina]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Avendaño]]></surname>
<given-names><![CDATA[Andrea]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad de Los Andes Facultad de Medicina Departamento de Puericultura y Pediatría]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Venezuela</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Instituto Autónomo Hospital Universitario de Los Andes Unidad de Oncología Pediátrica ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Venezuela</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,U.E. Fundación Colegio Monseñor Bosset  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Venezuela</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Universidad de Los Andes Facultad de Medicina Departamento de Puericultura y Pediatría]]></institution>
<addr-line><![CDATA[Mérida ]]></addr-line>
<country>Venezuela</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>10</month>
<year>2018</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>10</month>
<year>2018</year>
</pub-date>
<volume>75</volume>
<numero>5</numero>
<fpage>287</fpage>
<lpage>294</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_arttext&amp;pid=S1665-11462018000500287&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_abstract&amp;pid=S1665-11462018000500287&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_pdf&amp;pid=S1665-11462018000500287&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen:  Introducción: La neurofibromatosis tipo 1 (NF1) es una entidad genética con una incidencia de 1 entre 2,500 a 3,500 nacimientos. Por su parte, el complejo esclerosis tuberosa (CET) presenta una incidencia de 1 entre 6,000 a 10,000 nacimientos. Ambas entidades neurocutáneas cursan con un patrón de herencia autosómico dominante, expresividad variable y la morbimortalidad se encuentra asociada a complicaciones multisistémicas. El objetivo de este trabajo fue exponer las características clínicas y epidemiológicas de una serie de pacientes pediátricos con diagnóstico de NF1 y CET atendidos en la Unidad de Genética Médica de la Universidad de Los Andes.  Métodos: Este trabajo corresponde a una serie de casos de pacientes menores de 16 años atendidos en un período de 11 años, que cumplan con los criterios diagnósticos de NF1 y CET según los consensos para cada entidad.  Resultados: Se estudiaron 89 pacientes, 73 con NF1 y 16 con CET. Presentaron dos criterios para NF1, 58 (79.45%) pacientes, y las máculas café con leche fueron las más frecuentes y presentes en todos los casos; 10 pacientes (62.50 %) presentaron dos criterios mayores para el CET, y las máculas hipocrómicas estuvieron igualmente presentes en todos los casos.  Conclusiones: Este estudio muestra la forma de presentación clínica de las dos entidades neurocutáneas más frecuentes. Se discuten los criterios diagnósticos con el objeto de identificarlos a edades más tempranas y poder brindar una evaluación médica interdisciplinaria, tratamiento y un oportuno asesoramiento genético familiar.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract:  Background: Neurofibromatosis type 1 (NF1) is a genetic entity with an incidence of 1 in 2,500 to 3,500 births. Tuberous sclerosis complex (TSC) has an incidence between 1 in 6,000 to 10,000 births. Both neurocutaneous entities present an autosomal dominant inheritance pattern, variable expressivity and their morbidity and mortality is associated with multisystemic complications. The aim of this study was to present the clinical and epidemiological characteristics of a series of pediatric patients diagnosed with NF1 and TSC, who were treated in the Medical Genetics Unit of the Universidad of Los Andes.  Methods: This work corresponds to a series of cases of patients under 16 years of age served in a period of 11 years, who met the diagnostic criteria of NF1 and CET according to the consensus for each entity.  Results: We studied 89 patients, 73 with NF1 and 16 with TSC. 58 (79.45%) of the patients presented two criteria for NF1, with café-au-lait macules being the most frequent and present in all cases. 10 (62.50%) of the patients presented two major criteria for TSC; hypochromic macules were equally present in all cases.  Conclusions: This study shows the clinical presentation of the two most frequent neurocutaneous entities. Diagnostic criteria are discussed in order to perform them at younger ages and to provide an interdisciplinary medical evaluation, treatment and timely family genetic counseling.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Neurofibromatosis tipo 1]]></kwd>
<kwd lng="es"><![CDATA[Complejo esclerosis tuberosa]]></kwd>
<kwd lng="es"><![CDATA[Clínica]]></kwd>
<kwd lng="es"><![CDATA[Consensos diagnósticos]]></kwd>
<kwd lng="es"><![CDATA[Diagnóstico temprano]]></kwd>
<kwd lng="en"><![CDATA[Neurofibromatosis type 1]]></kwd>
<kwd lng="en"><![CDATA[Tuberous sclerosis complex]]></kwd>
<kwd lng="en"><![CDATA[Clinic]]></kwd>
<kwd lng="en"><![CDATA[Diagnostic consensus]]></kwd>
<kwd lng="en"><![CDATA[Early diagnosis]]></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[Duat Rodríguez]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Martos Moreno]]></surname>
<given-names><![CDATA[GÁ]]></given-names>
</name>
<name>
<surname><![CDATA[Martín Santo-Domingo]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Hernández­Martín]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Espejo-Saavedra Roca]]></surname>
<given-names><![CDATA[JM]]></given-names>
</name>
<name>
<surname><![CDATA[Ruiz-Falcó Rojas]]></surname>
<given-names><![CDATA[ML]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Phenotypic and genetic features in neurofibromatosis type 1 in children]]></article-title>
<source><![CDATA[An Pediatr (Barc)]]></source>
<year>2015</year>
<volume>83</volume>
<page-range>173-82</page-range></nlm-citation>
</ref>
<ref id="B2">
<label>2.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Chambers]]></surname>
<given-names><![CDATA[MA]]></given-names>
</name>
<name>
<surname><![CDATA[Miller]]></surname>
<given-names><![CDATA[DT]]></given-names>
</name>
<name>
<surname><![CDATA[Ullrich]]></surname>
<given-names><![CDATA[NJ]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[School liaison program supporting children with neurofibromatosis type 1: a model of care for children with chronic disease]]></article-title>
<source><![CDATA[Genet Med]]></source>
<year>2017</year>
</nlm-citation>
</ref>
<ref id="B3">
<label>3.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Kallionpää]]></surname>
<given-names><![CDATA[RA]]></given-names>
</name>
<name>
<surname><![CDATA[Uusitalo]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Leppävirta]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Pöyhönen]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Peltonen]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Peltonen]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Prevalence of neurofibromatosis type 1 in the Finnish population]]></article-title>
<source><![CDATA[Genet Med]]></source>
<year>2017</year>
</nlm-citation>
</ref>
<ref id="B4">
<label>4.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Gómez]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Batista]]></surname>
<given-names><![CDATA[O]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Molecular diagnosis as a strategy for differential diagnosis and at early ages of neurofibromatosis type 1 (NF1)]]></article-title>
<source><![CDATA[Rev Med Chil]]></source>
<year>2015</year>
<volume>143</volume>
<page-range>1320-30</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[Garcia-Penas]]></surname>
<given-names><![CDATA[JJ]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Learning disorders in neurofibromatosis type 1]]></article-title>
<source><![CDATA[Rev Neurol]]></source>
<year>2017</year>
<volume>64</volume>
<page-range>S59-63</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[Ehara]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Yamamoto]]></surname>
<given-names><![CDATA[O]]></given-names>
</name>
<name>
<surname><![CDATA[Kosaki]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Yoshida]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Clinical severity in Japanese patients with neurofibromatosis 1 based on DNB classification]]></article-title>
<source><![CDATA[J Dermatol]]></source>
<year>2017</year>
<volume>44</volume>
<page-range>1262-7</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[Maraña Pérez]]></surname>
<given-names><![CDATA[AI]]></given-names>
</name>
<name>
<surname><![CDATA[Duat Rodríguez]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Soto Insuga]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
<name>
<surname><![CDATA[Domínguez Carral]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Puertas Martín]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
<name>
<surname><![CDATA[González Gutiérrez Solana]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Prevalence of sleep disorders in patients with neurofibromatosis type 1]]></article-title>
<source><![CDATA[Neurologia]]></source>
<year>2015</year>
<volume>30</volume>
<page-range>561-5</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[Sites]]></surname>
<given-names><![CDATA[ER]]></given-names>
</name>
<name>
<surname><![CDATA[Smolarek]]></surname>
<given-names><![CDATA[TA]]></given-names>
</name>
<name>
<surname><![CDATA[Martin]]></surname>
<given-names><![CDATA[LJ]]></given-names>
</name>
<name>
<surname><![CDATA[Viskochil]]></surname>
<given-names><![CDATA[DH]]></given-names>
</name>
<name>
<surname><![CDATA[Stevenson]]></surname>
<given-names><![CDATA[DA]]></given-names>
</name>
<name>
<surname><![CDATA[Ullrich]]></surname>
<given-names><![CDATA[NJ]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Analysis of copy number variants in 11 pairs of monozygotic twins with neurofibromatosis type 1]]></article-title>
<source><![CDATA[Am J Med Genet A]]></source>
<year>2017</year>
<volume>173</volume>
<page-range>647-53</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[Hernández-Martín]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Torrelo]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Rasopathies: developmental disorders that predispose to cancer and skin manifestations]]></article-title>
<source><![CDATA[Actas Dermosifiliogr]]></source>
<year>2011</year>
<volume>102</volume>
<page-range>402-16</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[Vaucheret Paz]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[López Ballent]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Puga]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[García Basalo]]></surname>
<given-names><![CDATA[MJ]]></given-names>
</name>
<name>
<surname><![CDATA[Baliarda]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Ekonen]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Cognitive profile and disorders affecting higher brain functions in paediatric patients with neurofibromatosis type 1]]></article-title>
<source><![CDATA[Neurologia]]></source>
<year>2017</year>
<volume>17</volume>
<page-range>30148-2</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[Cammarata-Scalisi]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Lacruz-Rengel]]></surname>
<given-names><![CDATA[MA]]></given-names>
</name>
<name>
<surname><![CDATA[Stock]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Vidales]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Callea]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Aspectos clínicos y genéticos del complejo esclerosis tuberosa]]></article-title>
<source><![CDATA[Arch Venez Puer Ped]]></source>
<year>2017</year>
<volume>80</volume>
<page-range>27-33</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[Cammarata-Scalisi]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Vidales Moreno]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Stock]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Avendaño]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Araque]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Lacruz-Rengel]]></surname>
<given-names><![CDATA[MA]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Two novel mutations in the TSC2 gene causing severe phenotype in nervous system and skin in a patient with tuberous sclerosis complex]]></article-title>
<source><![CDATA[J Eur Acad Dermatol Venereol]]></source>
<year>2017</year>
<volume>32</volume>
<page-range>e243</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[Wang]]></surname>
<given-names><![CDATA[YY]]></given-names>
</name>
<name>
<surname><![CDATA[Pang]]></surname>
<given-names><![CDATA[LY]]></given-names>
</name>
<name>
<surname><![CDATA[Ma]]></surname>
<given-names><![CDATA[SF]]></given-names>
</name>
<name>
<surname><![CDATA[Zhang]]></surname>
<given-names><![CDATA[MN]]></given-names>
</name>
<name>
<surname><![CDATA[Liu]]></surname>
<given-names><![CDATA[LY]]></given-names>
</name>
<name>
<surname><![CDATA[Zou]]></surname>
<given-names><![CDATA[LP]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Epilepsy may be the major risk factor of mental retardation in children with tuberous sclerosis: A retrospective cohort study]]></article-title>
<source><![CDATA[Epilepsy Behav]]></source>
<year>2017</year>
<volume>77</volume>
<page-range>13-8</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[Avgeris]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Fostira]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Vagena]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Ninios]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Delimitsou]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Vodicka]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Mutational analysis of TSC1 and TSC2 genes in tuberous sclerosis complex patients from Greece]]></article-title>
<source><![CDATA[Sci Rep]]></source>
<year>2017</year>
<volume>7</volume>
<page-range>16697</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[Monteiro]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Garrido]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Pina]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Chorão]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Carrilho]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
<name>
<surname><![CDATA[Figueiroa]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Tuberous sclerosis: clinical characteristics and their relationship to genotype/phenotype]]></article-title>
<source><![CDATA[An Pediatr (Barc)]]></source>
<year>2014</year>
<volume>81</volume>
<page-range>289-96</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[Capal]]></surname>
<given-names><![CDATA[JK]]></given-names>
</name>
<name>
<surname><![CDATA[Horn]]></surname>
<given-names><![CDATA[PS]]></given-names>
</name>
<name>
<surname><![CDATA[Murray]]></surname>
<given-names><![CDATA[DS]]></given-names>
</name>
<name>
<surname><![CDATA[Byars]]></surname>
<given-names><![CDATA[AW]]></given-names>
</name>
<name>
<surname><![CDATA[Bing]]></surname>
<given-names><![CDATA[NM]]></given-names>
</name>
<name>
<surname><![CDATA[Kent]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Utility of the Autism Observation Scale for Infants in early identification of autism in tuberous sclerosis complex]]></article-title>
<source><![CDATA[Pediatr Neurol]]></source>
<year>2017</year>
<volume>75</volume>
<page-range>80-6</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[Papadopoulou]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Dinopoulos]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Koutsodontis]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Pons]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Vorgia]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Koute]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Screening for TSC1 and TSC2 mutations using NGS in Greek children with tuberous sclerosis syndrome]]></article-title>
<source><![CDATA[Eur J Paediatr Neurol]]></source>
<year>2018</year>
<volume>22</volume>
<page-range>419-26</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[Northrup]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Krueger]]></surname>
<given-names><![CDATA[DA]]></given-names>
</name>
</person-group>
<collab>International Tuberous Sclerosis Complex Consensus Group</collab>
<article-title xml:lang=""><![CDATA[Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference]]></article-title>
<source><![CDATA[Pediatr Neurol]]></source>
<year>2013</year>
<volume>49</volume>
<page-range>243-54</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[DeBella]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Szudek]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Friedman]]></surname>
<given-names><![CDATA[JM]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children]]></article-title>
<source><![CDATA[Pediatrics]]></source>
<year>2000</year>
<volume>105</volume>
<page-range>608-14</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[Hernández-Martín]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Duat-Rodríguez]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[An update on neurofibromatosis type 1: Not just café-au-lait spots, freckling, and neurofibromas. An up-date. part I. Dermatological clinical criteria diagnostic of the disease]]></article-title>
<source><![CDATA[Actas Dermosifiliogr]]></source>
<year>2016</year>
<volume>107</volume>
<page-range>454-64</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[Blakeley]]></surname>
<given-names><![CDATA[JO]]></given-names>
</name>
<name>
<surname><![CDATA[Bakker]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Barker]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Clapp]]></surname>
<given-names><![CDATA[W]]></given-names>
</name>
<name>
<surname><![CDATA[Ferner]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Fisher]]></surname>
<given-names><![CDATA[MJ]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[The path forward: 2015 International Children&#8217;s Tumor Foundation conference on neurofibromatosis type 1, type 2, and schwannomatosis]]></article-title>
<source><![CDATA[Am J Med Genet A]]></source>
<year>2017</year>
<volume>173</volume>
<page-range>1714-21</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[Hirabaru]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Matsuo]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Neurological comorbidity in children with neurofibromatosis type 1]]></article-title>
<source><![CDATA[Pediatr Int]]></source>
<year>2017</year>
<volume>60</volume>
<page-range>70-5</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[Bilder]]></surname>
<given-names><![CDATA[DA]]></given-names>
</name>
<name>
<surname><![CDATA[Bakian]]></surname>
<given-names><![CDATA[AV]]></given-names>
</name>
<name>
<surname><![CDATA[Stevenson]]></surname>
<given-names><![CDATA[DA]]></given-names>
</name>
<name>
<surname><![CDATA[Carbone]]></surname>
<given-names><![CDATA[PS]]></given-names>
</name>
<name>
<surname><![CDATA[Cunniff]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Goodman­]]></surname>
<given-names><![CDATA[AB]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Brief report: the prevalence of neurofibromatosis type 1 among children with autism spectrum disorder identified by the autism and developmental disabilities monitoring network]]></article-title>
<source><![CDATA[J Autism Dev Disord]]></source>
<year>2016</year>
<volume>46</volume>
<page-range>3369-76</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[Flotats-Bastardas]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Ebrahimi-Fakhari]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Gortner]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Poryo]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Zemlin]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Macaya-Ruiz]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Diagnosis and treatment of tuberous sclerosis manifestations in children: A multicenter study]]></article-title>
<source><![CDATA[Neuropediatrics]]></source>
<year>2018</year>
<volume>49</volume>
<page-range>193-.</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[Davis]]></surname>
<given-names><![CDATA[PE]]></given-names>
</name>
<name>
<surname><![CDATA[Filip-Dhima]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Sideridis]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Peters]]></surname>
<given-names><![CDATA[JM]]></given-names>
</name>
<name>
<surname><![CDATA[Au]]></surname>
<given-names><![CDATA[KS]]></given-names>
</name>
<name>
<surname><![CDATA[Northrup]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Presentation and diagnosis of tuberous sclerosis complex in infants]]></article-title>
<source><![CDATA[Pediatrics]]></source>
<year>2017</year>
<volume>140</volume>
</nlm-citation>
</ref>
<ref id="B26">
<label>26.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Macaya]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Torra]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
</person-group>
<collab>Grupo Español Multidisciplinar de expertos en Complejo Esclerosis Tuberosa</collab>
<article-title xml:lang=""><![CDATA[Recommendations for the multidisciplinary management of tuberous sclerosis complex]]></article-title>
<source><![CDATA[Med Clin (Barc)]]></source>
<year>2016</year>
<volume>147</volume>
<page-range>211-6</page-range></nlm-citation>
</ref>
</ref-list>
</back>
</article>
