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Early infantile-onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy.
Davids, Mariska; Markello, Thomas; Wolfe, Lynne A; Chepa-Lotrea, Xenia; Tifft, Cynthia J; Gahl, William A; Malicdan, May Christine V.
Afiliação
  • Davids M; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, Maryland.
  • Markello T; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, Maryland.
  • Wolfe LA; Office of the Clinical Director, NHGRI, NIH, Bethesda, Maryland.
  • Chepa-Lotrea X; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, Maryland.
  • Tifft CJ; Office of the Clinical Director, NHGRI, NIH, Bethesda, Maryland.
  • Gahl WA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, Maryland.
  • Malicdan MCV; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, Maryland.
Hum Mutat ; 40(1): 42-47, 2019 01.
Article em En | MEDLINE | ID: mdl-30362252
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Espasmos Infantis / Deleção Cromossômica / Dissomia Uniparental / Proteínas Supressoras de Tumor / Oxidorredutase com Domínios WW Limite: Adult / Child / Female / Humans / Infant Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Espasmos Infantis / Deleção Cromossômica / Dissomia Uniparental / Proteínas Supressoras de Tumor / Oxidorredutase com Domínios WW Limite: Adult / Child / Female / Humans / Infant Idioma: En Ano de publicação: 2019 Tipo de documento: Article