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MED23-associated intellectual disability in a non-consanguineous family.
Trehan, Aditi; Brady, Jacqueline M; Maduro, Valerie; Bone, William P; Huang, Yan; Golas, Gretchen A; Kane, Megan S; Lee, Paul R; Thurm, Audrey; Gropman, Andrea L; Paul, Scott M; Vezina, Gilbert; Markello, Thomas C; Gahl, William A; Boerkoel, Cornelius F; Tifft, Cynthia J.
Afiliação
  • Trehan A; Office of the Clinical Director, NHGRI/NIH, Bethesda, Maryland.
  • Brady JM; NIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, Maryland.
  • Maduro V; Office of the Clinical Director, NHGRI/NIH, Bethesda, Maryland.
  • Bone WP; NIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, Maryland.
  • Huang Y; Office of the Clinical Director, NHGRI/NIH, Bethesda, Maryland.
  • Golas GA; NIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, Maryland.
  • Kane MS; Office of the Clinical Director, NHGRI/NIH, Bethesda, Maryland.
  • Lee PR; NIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, Maryland.
  • Thurm A; Office of the Clinical Director, NHGRI/NIH, Bethesda, Maryland.
  • Gropman AL; NIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, Maryland.
  • Paul SM; Office of the Clinical Director, NHGRI/NIH, Bethesda, Maryland.
  • Vezina G; NIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, Maryland.
  • Markello TC; NIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, Maryland.
  • Gahl WA; National Institute of Neurological Disorder and Stroke, NIH, Bethesda, Maryland.
  • Boerkoel CF; Pediatrics and Developmental Neuroscience, NIMH/NIH, Bethesda, Maryland.
  • Tifft CJ; Office of the Clinical Director, NHGRI/NIH, Bethesda, Maryland.
Am J Med Genet A ; 167(6): 1374-80, 2015 Jun.
Article em En | MEDLINE | ID: mdl-25845469
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Mutação de Sentido Incorreto / Complexo Mediador / Cardiopatias Congênitas / Deficiência Intelectual Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Mutação de Sentido Incorreto / Complexo Mediador / Cardiopatias Congênitas / Deficiência Intelectual Idioma: En Ano de publicação: 2015 Tipo de documento: Article