Your browser doesn't support javascript.
loading
De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.
Berko, Esther R; Cho, Megan T; Eng, Christine; Shao, Yunru; Sweetser, David A; Waxler, Jessica; Robin, Nathaniel H; Brewer, Fallon; Donkervoort, Sandra; Mohassel, Payam; Bönnemann, Carsten G; Bialer, Martin; Moore, Christine; Wolfe, Lynne A; Tifft, Cynthia J; Shen, Yufeng; Retterer, Kyle; Millan, Francisca; Chung, Wendy K.
Afiliação
  • Berko ER; Department of Pediatrics, Columbia University Medical Center, New York, New York, USA.
  • Cho MT; GeneDx, Gaithersburg, Maryland, USA.
  • Eng C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Shao Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Sweetser DA; Texas Children's Hospital, Houston, Texas, USA.
  • Waxler J; Massachusetts General Hospital, Boston, Massachusetts, USA.
  • Robin NH; Massachusetts General Hospital, Boston, Massachusetts, USA.
  • Brewer F; University of Alabama at Birmingham, Birmingham, Alabama, USA.
  • Donkervoort S; University of Alabama at Birmingham, Birmingham, Alabama, USA.
  • Mohassel P; National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
  • Bönnemann CG; National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
  • Bialer M; National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
  • Moore C; Cohen Children's Medical Center of NY, New Hyde Park, New York, USA.
  • Wolfe LA; Cohen Children's Medical Center of NY, New Hyde Park, New York, USA.
  • Tifft CJ; Office of the Clinical Director, National Institutes of Health, Bethesda, Maryland, USA.
  • Shen Y; Undiagnosed Diseases Program, National Institutes of Health, Bethesda, Maryland, USA.
  • Retterer K; Office of the Clinical Director, National Institutes of Health, Bethesda, Maryland, USA.
  • Millan F; Undiagnosed Diseases Program, National Institutes of Health, Bethesda, Maryland, USA.
  • Chung WK; Departments of Systems Biology and Biomedical Informatics, Columbia University Medical Center, New York, New York, USA.
J Med Genet ; 54(2): 84-86, 2017 02.
Article em En | MEDLINE | ID: mdl-27389779
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ubiquitina-Proteína Ligases / Transtornos do Neurodesenvolvimento / Proteína Tumoral p73 / Deficiência Intelectual / Hipotonia Muscular Tipo de estudo: Risk_factors_studies Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ubiquitina-Proteína Ligases / Transtornos do Neurodesenvolvimento / Proteína Tumoral p73 / Deficiência Intelectual / Hipotonia Muscular Tipo de estudo: Risk_factors_studies Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article