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Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients.
Gazdagh, Gabriella; Blyth, Moira; Scurr, Ingrid; Turnpenny, Peter D; Mehta, Sarju G; Armstrong, Ruth; McEntagart, Meriel; Newbury-Ecob, Ruth; Tobias, Edward S; Joss, Shelagh.
Afiliação
  • Gazdagh G; West of Scotland Regional Genetics Service, Laboratory Medicine Building, Queen Elizabeth University Hospital, Glasgow, United Kingdom. Electronic address: gabriella.gazdagh@ggc.scot.nhs.uk.
  • Blyth M; Yorkshire Regional Genetics Service, Department of Clinical Genetics, Chapel Allerton Hospital, Leeds, United Kingdom.
  • Scurr I; Bristol Clinical Genetics Service, St Michael's Hospital, Bristol, United Kingdom.
  • Turnpenny PD; Clinical Genetics Department, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.
  • Mehta SG; Department of Clinical Genetics, Addenbrookes Hospital, Cambridge, United Kingdom.
  • Armstrong R; Department of Clinical Genetics, Addenbrookes Hospital, Cambridge, United Kingdom.
  • McEntagart M; South West Thames Regional Genetics Service, St. George's Hospital, London, United Kingdom.
  • Newbury-Ecob R; Bristol Clinical Genetics Service, St Michael's Hospital, Bristol, United Kingdom.
  • Tobias ES; Academic Unit of Medical Genetics and Clinical Pathology, School of Medicine, College of Medical Veterinary and Life Sciences, University of Glasgow, Glasgow, United Kingdom.
  • Joss S; West of Scotland Regional Genetics Service, Laboratory Medicine Building, Queen Elizabeth University Hospital, Glasgow, United Kingdom. Electronic address: shelagh.joss@ggc.scot.nhs.uk.
Eur J Med Genet ; 62(1): 27-34, 2019 Jan.
Article em En | MEDLINE | ID: mdl-29698805

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Fatores de Transcrição / Anormalidades Múltiplas / Deformidades Congênitas da Mão / Face / Deficiência Intelectual / Micrognatismo / Pescoço Limite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de publicação: Holanda

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Fatores de Transcrição / Anormalidades Múltiplas / Deformidades Congênitas da Mão / Face / Deficiência Intelectual / Micrognatismo / Pescoço Limite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de publicação: Holanda