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A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia.
Lange, L; Pagnamenta, A T; Lise, S; Clasper, S; Stewart, H; Akha, E S; Quaghebeur, G; Knight, S J L; Keays, D A; Taylor, J C; Kini, U.
Afiliação
  • Lange L; National Institute for Health Research Biomedical Research Centre, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
  • Pagnamenta AT; National Institute for Health Research Biomedical Research Centre, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
  • Lise S; National Institute for Health Research Biomedical Research Centre, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
  • Clasper S; Oxford Regional Genetics Service, Oxford Radcliffe Hospitals NHS Trust, The Churchill Hospital, Oxford, UK.
  • Stewart H; Department of Clinical Genetics, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Akha ES; National Institute for Health Research Biomedical Research Centre, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
  • Quaghebeur G; Department of Neuroradiology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Knight SJ; National Institute for Health Research Biomedical Research Centre, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
  • Keays DA; Institute of Molecular Pathology, Vienna, Austria.
  • Taylor JC; National Institute for Health Research Biomedical Research Centre, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
  • Kini U; Department of Clinical Genetics, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Clin Genet ; 90(3): 258-62, 2016 09.
Article em En | MEDLINE | ID: mdl-26954065
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ribonucleoproteínas / Anormalidades Múltiplas / Doenças Vestibulares / Deficiências do Desenvolvimento / Face / Doenças Hematológicas / Deficiência Intelectual Limite: Female / Humans / Male Idioma: En Revista: Clin Genet Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Reino Unido
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ribonucleoproteínas / Anormalidades Múltiplas / Doenças Vestibulares / Deficiências do Desenvolvimento / Face / Doenças Hematológicas / Deficiência Intelectual Limite: Female / Humans / Male Idioma: En Revista: Clin Genet Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Reino Unido