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A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome.
Geerts-Haages, Amber; Bossuyt, Stijn N V; den Besten, Inge; Bruggenwirth, Hennie; van der Burgt, Ineke; Yntema, Helger G; Punt, A Mattijs; Brooks, Alice; Elgersma, Ype; Distel, Ben; Valstar, Marlies.
Afiliação
  • Geerts-Haages A; Intellectual Disability Medicine, Department of General Practice, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • Bossuyt SNV; Department of Medical Biochemistry, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
  • den Besten I; Intellectual Disability Medicine, Department of General Practice, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • Bruggenwirth H; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • van der Burgt I; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Yntema HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Punt AM; Department of Neuroscience, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • Brooks A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • Elgersma Y; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • Distel B; Department of Neuroscience, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • Valstar M; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
Mol Genet Genomic Med ; 8(11): e1481, 2020 11.
Article em En | MEDLINE | ID: mdl-32889787
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Deficiências do Desenvolvimento / Deleção de Genes / Síndrome de Angelman / Ubiquitina-Proteína Ligases Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Animals / Female / Humans / Male 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: Fenótipo / Deficiências do Desenvolvimento / Deleção de Genes / Síndrome de Angelman / Ubiquitina-Proteína Ligases Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Animals / Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article