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Null variants and deletions in BRWD3 cause an X-linked syndrome of mild-moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients.
Ostrowski, Philip J; Zachariou, Anna; Loveday, Chey; Baralle, Diana; Blair, Edward; Douzgou, Sofia; Field, Michael; Foster, Alison; Kyle, Claire; Lachlan, Katherine; Mansour, Sahar; Naik, Swati; Rea, Gillian; Smithson, Sarah; Sznajer, Yves; Thompson, Elizabeth; Cole, Trevor; Tatton-Brown, Katrina.
Afiliação
  • Ostrowski PJ; South West Thames Regional Genetics Service, St George's University NHS Foundation Trust, London, UK.
  • Zachariou A; Division of Clinical Studies, Institute of Cancer Research, London, UK.
  • Loveday C; Division of Genetics and Epidemiology, Institute of Cancer Research, London, UK.
  • Baralle D; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.
  • Blair E; Faculty of Medicine, Human Development and Health, University of Southampton, Southampton, UK.
  • Douzgou S; Oxford Centre for Genomic Medicine, ACE Building, Nuffield Orthopaedic Centre, Oxford, UK.
  • Field M; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, UK.
  • Foster A; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, UK.
  • Kyle C; Genetics of Learning Disability Service, Hunter Genetics, Waratah, New South Wales, Australia.
  • Lachlan K; West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK.
  • Mansour S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
  • Naik S; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.
  • Rea G; South West Thames Regional Genetics Service, St George's University NHS Foundation Trust, London, UK.
  • Smithson S; Clinical Genetics, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
  • Sznajer Y; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK.
  • Thompson E; Department of Clinical Genetics, St Michael's Hospital, Bristol, UK.
  • Cole T; Center for Human Genetics, Cliniques Universitaires St-Luc, Universite Catholique de Louvain, Brussels, Belgium.
  • Tatton-Brown K; South Australian Clinical Genetics Service, Women's and Children's Hospital, Adelaide, South Australia, Australia.
Am J Med Genet C Semin Med Genet ; 181(4): 638-643, 2019 12.
Article em En | MEDLINE | ID: mdl-31714006
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Deleção de Genes / Doenças Genéticas Ligadas ao Cromossomo X / Megalencefalia / Deficiência Intelectual / Obesidade Limite: Adolescent / Child / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Deleção de Genes / Doenças Genéticas Ligadas ao Cromossomo X / Megalencefalia / Deficiência Intelectual / Obesidade Limite: Adolescent / Child / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article