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Extending the phenotypic spectrum of Bohring-Opitz syndrome: Mild case confirmed by functional studies.
Leon, Eyby; Diaz, Jullianne; Castilla-Vallmanya, Laura; Grinberg, Daniel; Balcells, Susanna; Urreizti, Roser.
Afiliação
  • Leon E; Rare Disease Institute, Children's National Health System, Washington, District of Columbia.
  • Diaz J; Rare Disease Institute, Children's National Health System, Washington, District of Columbia.
  • Castilla-Vallmanya L; Department of Genetics, Microbiology and Statistics, Faculty of Biology, IBUB, IRSJD, CIBERER, University of Barcelona, Barcelona, Spain.
  • Grinberg D; Department of Genetics, Microbiology and Statistics, Faculty of Biology, IBUB, IRSJD, CIBERER, University of Barcelona, Barcelona, Spain.
  • Balcells S; Department of Genetics, Microbiology and Statistics, Faculty of Biology, IBUB, IRSJD, CIBERER, University of Barcelona, Barcelona, Spain.
  • Urreizti R; Department of Genetics, Microbiology and Statistics, Faculty of Biology, IBUB, IRSJD, CIBERER, University of Barcelona, Barcelona, Spain.
Am J Med Genet A ; 182(1): 201-204, 2020 01.
Article em En | MEDLINE | ID: mdl-31692235
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Repressoras / Predisposição Genética para Doença / Craniossinostoses / Deficiência Intelectual Limite: Child / Child, preschool / Female / Humans Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Repressoras / Predisposição Genética para Doença / Craniossinostoses / Deficiência Intelectual Limite: Child / Child, preschool / Female / Humans Idioma: En Ano de publicação: 2020 Tipo de documento: Article