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Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndrome.
Ayoub, Sandy; Ghali, Neeti; Angwin, Chloe; Baker, Duncan; Baffini, Stella; Brady, Angela F; Giovannucci Uzielli, Maria Luisa; Giunta, Cecilia; Johnson, Diana S; Kosho, Tomoki; Neas, Katherine; Pope, F Michael; Rutsch, Frank; Scarselli, Gloria; Sobey, Glenda; Vandersteen, Anthony; van Dijk, Fleur S.
Afiliação
  • Ayoub S; Ehlers-Danlos Syndrome National Diagnostic Service, Northwick Park and St. Mark's Hospitals, Harrow, London, UK.
  • Ghali N; Ehlers-Danlos Syndrome National Diagnostic Service, Northwick Park and St. Mark's Hospitals, Harrow, London, UK.
  • Angwin C; Ehlers-Danlos Syndrome National Diagnostic Service, Northwick Park and St. Mark's Hospitals, Harrow, London, UK.
  • Baker D; Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service, Sheffield, UK.
  • Baffini S; Genetics Science, Piazza Savonarola 11, Florence, Italy.
  • Brady AF; Ehlers-Danlos Syndrome National Diagnostic Service, Northwick Park and St. Mark's Hospitals, Harrow, London, UK.
  • Giovannucci Uzielli ML; Genetics Science, Piazza Savonarola 11, Florence, Italy.
  • Giunta C; Connective Tissue Unit, Division of Metabolism and Children's Research Centre, University Children's Hospital, Zurich, Switzerland.
  • Johnson DS; Ehlers-Danlos Syndrome National Diagnostic Service, Sheffield Children's Hospital, Sheffield, UK.
  • Kosho T; Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.
  • Neas K; Genetic Health Service New Zealand, Wellington, New Zealand.
  • Pope FM; Ehlers-Danlos Syndrome National Diagnostic Service, Northwick Park and St. Mark's Hospitals, Harrow, London, UK.
  • Rutsch F; Department of Pediatrics, University of Münster, Münster, Germany.
  • Scarselli G; Genetics Science, Piazza Savonarola 11, Florence, Italy.
  • Sobey G; Ehlers-Danlos Syndrome National Diagnostic Service, Sheffield Children's Hospital, Sheffield, UK.
  • Vandersteen A; Maritime Medical Genetics Service, IWK Health Centre, Halifax, Nova Scotia, Canada.
  • van Dijk FS; Ehlers-Danlos Syndrome National Diagnostic Service, Northwick Park and St. Mark's Hospitals, Harrow, London, UK.
Am J Med Genet A ; 182(5): 994-1007, 2020 05.
Article em En | MEDLINE | ID: mdl-32091183
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Colágeno Tipo I / Síndrome de Ehlers-Danlos / Luxação Congênita de Quadril Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged 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: Colágeno Tipo I / Síndrome de Ehlers-Danlos / Luxação Congênita de Quadril Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2020 Tipo de documento: Article