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Clinical findings of 21 previously unreported probands with HNRNPU-related syndrome and comprehensive literature review.
Durkin, Anna; Albaba, Shadi; Fry, Andrew E; Morton, Jenny E; Douglas, Andrew; Beleza, Ana; Williams, Denise; Volker-Touw, Catharina M L; Lynch, Sally A; Canham, Natalie; Clowes, Virginia; Straub, Volker; Lachlan, Katherine; Gibbon, Frances; El Gamal, Mayy; Varghese, Vinod; Parker, Michael J; Newbury-Ecob, Ruth; Turnpenny, Peter D; Gardham, Alice; Ghali, Neeti; Balasubramanian, Meena.
Afiliação
  • Durkin A; Medical School, University of Sheffield, Sheffield, UK.
  • Albaba S; Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
  • Fry AE; Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.
  • Morton JE; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.
  • Douglas A; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.
  • Beleza A; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.
  • Williams D; Guy's and St Thomas Clinical Genetics Service, London, UK.
  • Volker-Touw CML; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.
  • Lynch SA; Department of Genetics, Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Centre Utrecht, University of Utrecht, Utrecht, Netherlands.
  • Canham N; Department of Clinical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin, UK.
  • Clowes V; Clinical Genetics Division, Liverpool Clinical Genetics Service, Liverpool, UK.
  • Straub V; Cambridge Clinical Genetics Service, Addenbrooke's Hospital, Cambridge, UK.
  • Lachlan K; Newcastle Clinical Genetics Service, Newcastle, UK.
  • Gibbon F; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.
  • El Gamal M; Department of Paediatric Neurology, Noah's Ark Children's Hospital for Wales, Heath Park, Cardiff, UK.
  • Varghese V; Department of Paediatric Neurology, Noah's Ark Children's Hospital for Wales, Heath Park, Cardiff, UK.
  • Parker MJ; Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.
  • Newbury-Ecob R; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
  • Turnpenny PD; Bristol Clinical Genetics Service, University Hospitals of Bristol NHS Trust, Bristol, UK.
  • Gardham A; Exeter Medical Genetics Service, University of Exeter, Exeter, UK.
  • Ghali N; London North West University Healthcare NHS Trust Genetics Service, Middlesex, UK.
  • Balasubramanian M; London North West University Healthcare NHS Trust Genetics Service, Middlesex, UK.
Am J Med Genet A ; 182(7): 1637-1654, 2020 07.
Article em En | MEDLINE | ID: mdl-32319732
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ribonucleoproteínas Nucleares Heterogêneas Grupo U / Transtornos do Neurodesenvolvimento Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Pregnancy Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Reino Unido
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ribonucleoproteínas Nucleares Heterogêneas Grupo U / Transtornos do Neurodesenvolvimento Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Pregnancy Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Reino Unido