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Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility.
Ghali, Neeti; Baker, Duncan; Brady, Angela F; Burrows, Nigel; Cervi, Elena; Cilliers, Deirdre; Frank, Michael; Germain, Dominique P; Hulmes, David J S; Jacquemont, Marie-Line; Kannu, Peter; Lefroy, Henrietta; Legrand, Anne; Pope, F Michael; Robertson, Lisa; Vandersteen, Anthony; von Klemperer, Kate; Warburton, Renarta; Whiteford, Margo; van Dijk, Fleur S.
Afiliación
  • Ghali N; Ehlers-Danlos Syndrome National Diagnostic Service London, North West Thames Regional Genetics Service, London North West Healthcare University NHS Trust, Harrow, Middlesex, UK. neeti.ghali@nhs.net.
  • Baker D; Connective Tissue Disorders Service, Sheffield Diagnostic Genetics Service, Sheffield, UK.
  • Brady AF; Ehlers-Danlos Syndrome National Diagnostic Service London, North West Thames Regional Genetics Service, London North West Healthcare University NHS Trust, Harrow, Middlesex, UK.
  • Burrows N; Department of Dermatology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
  • Cervi E; Centre of Inherited Cardiovascular Diseases, Great Ormond Street Hospital NHS Foundation Trust, London, UK.
  • Cilliers D; Oxford Centre for Genomic Medicine, Oxford University NHS Foundation Trust, Oxford, UK.
  • Frank M; AP-HP Hopital Europeen Georges Pompidou, Departement de Genetique et Centre de Reference des Maladies Vasculaires Rares, Paris, France.
  • Germain DP; Division of Medical Genetics, University of Versailles, Paris-Saclay University, Montigny, France.
  • Hulmes DJS; UMR5305, CNRS / Université Claude Bernard Lyon 1, Lyon, France.
  • Jacquemont ML; Medical Genetics Unit, CHU La Réunion, Saint-Pierre, France.
  • Kannu P; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.
  • Lefroy H; Oxford Centre for Genomic Medicine, Oxford University NHS Foundation Trust, Oxford, UK.
  • Legrand A; Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Centre de Référence des Maladies Vasculaires Rares, Paris, France.
  • Pope FM; Department of Dermatology, Chelsea & Westminster Hospital NHS Foundation Trust, London, UK.
  • Robertson L; Department of Clinical Genetics, Aberdeen Royal Infirmary, Scotland, UK.
  • Vandersteen A; Maritime Medical Genetics Service, IWK Health Centre, Halifax, NS, Canada.
  • von Klemperer K; Department of Cardiology, St Barthlomew's Hospital, London, UK.
  • Warburton R; Connective Tissue Disorders Service, Sheffield Diagnostic Genetics Service, Sheffield, UK.
  • Whiteford M; Clinical Genetics West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital Glasgow, Scotland, UK.
  • van Dijk FS; Ehlers-Danlos Syndrome National Diagnostic Service London, North West Thames Regional Genetics Service, London North West Healthcare University NHS Trust, Harrow, Middlesex, UK.
Genet Med ; 21(9): 2081-2091, 2019 09.
Article en En | MEDLINE | ID: mdl-30837697
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Anomalías Cutáneas / Colágeno Tipo III / Síndrome de Ehlers-Danlos Tipo de estudio: Guideline Límite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Anomalías Cutáneas / Colágeno Tipo III / Síndrome de Ehlers-Danlos Tipo de estudio: Guideline Límite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Reino Unido