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The variability of SMARCA4-related Coffin-Siris syndrome: Do nonsense candidate variants add to milder phenotypes?
Li, Dong; Ahrens-Nicklas, Rebecca C; Baker, Janice; Bhambhani, Vikas; Calhoun, Amy; Cohen, Julie S; Deardorff, Matthew A; Fernández-Jaén, Alberto; Kamien, Benjamin; Jain, Mahim; Mckenzie, Fiona; Mintz, Mark; Motter, Constance; Niles, Kirsten; Ritter, Alyssa; Rogers, Curtis; Roifman, Maian; Townshend, Sharron; Ward-Melver, Catherine; Schrier Vergano, Samantha A.
Afiliação
  • Li D; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Ahrens-Nicklas RC; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Baker J; Genomic Medicine, Children's Minnesota, Minneapolis, Minnesota, USA.
  • Bhambhani V; Genomic Medicine, Children's Minnesota, Minneapolis, Minnesota, USA.
  • Calhoun A; Division of Medical Genetics and Genomics, University of Iowa Stead Family Children's Hospital, Iowa City, Iowa, USA.
  • Cohen JS; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland, USA.
  • Deardorff MA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  • Fernández-Jaén A; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Kamien B; Department of Neuropediatrics, Hospital Universitario Quirónsalud, Universidad Europea de Madrid, Madrid, Spain.
  • Jain M; Genetic Services of Western Australia, King Edward Memorial Hospital, Subiaco, Western Australia, Australia.
  • Mckenzie F; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland, USA.
  • Mintz M; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  • Motter C; Genetic Services of Western Australia, King Edward Memorial Hospital, Subiaco, Western Australia, Australia.
  • Niles K; CNNH NeuroHealth and the Clinical Research Center of New Jersey, Voorhees, New Jersey, USA.
  • Ritter A; Genetic Center, Akron Children's Hospital, Akron, Ohio, USA.
  • Rogers C; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, Toronto, Canada.
  • Roifman M; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Townshend S; Division of Clinical Genetics, Greenwood Genetics Center, Greenville, South Carolina, USA.
  • Ward-Melver C; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, Toronto, Canada.
  • Schrier Vergano SA; Genetic Services of Western Australia, King Edward Memorial Hospital, Subiaco, Western Australia, Australia.
Am J Med Genet A ; 182(9): 2058-2067, 2020 09.
Article em En | MEDLINE | ID: mdl-32686290
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Anormalidades Múltiplas / Deformidades Congênitas da Mão / Proteínas Nucleares / DNA Helicases / Predisposição Genética para Doença / Proteínas de Ligação a DNA / Face / Deficiência Intelectual / Micrognatismo Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Anormalidades Múltiplas / Deformidades Congênitas da Mão / Proteínas Nucleares / DNA Helicases / Predisposição Genética para Doença / Proteínas de Ligação a DNA / Face / Deficiência Intelectual / Micrognatismo Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Estados Unidos