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Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome.
McKie, Arthur B; Alsaedi, Atif; Vogt, Julie; Stuurman, Kyra E; Weiss, Marjan M; Shakeel, Hassan; Tee, Louise; Morgan, Neil V; Nikkels, Peter G J; van Haaften, Gijs; Park, Soo-Mi; van der Smagt, Jasper J; Bugiani, Marianna; Maher, Eamonn R.
Afiliação
  • McKie AB; Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK. abm44@medschl.cam.ac.uk.
  • Alsaedi A; Centre for Rare Diseases and Personalised Medicine, University of Birmingham, Edgbaston, Birmingham, B15 2TT, UK. ASA195@student.bham.ac.uk.
  • Vogt J; West Midlands Regional Genetics Service, Birmingham Women's Hospital, Birmingham, B15 2TG, UK. Julie.Vogt@bwnft.nhs.uk.
  • Stuurman KE; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands. k.stuurman@vumc.nl.
  • Weiss MM; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands. j.weiss@vumc.nl.
  • Shakeel H; Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK. hs470@cam.ac.uk.
  • Tee L; Centre for Rare Diseases and Personalised Medicine, University of Birmingham, Edgbaston, Birmingham, B15 2TT, UK. L.Tee@bham.ac.uk.
  • Morgan NV; Centre for Rare Diseases and Personalised Medicine, University of Birmingham, Edgbaston, Birmingham, B15 2TT, UK. N.V.Morgan@bham.ac.uk.
  • Nikkels PG; Department of Pathology, University Medical Center Utrecht, Utrecht, The Netherlands. P.G.J.Nikkels@umcutrecht.nl.
  • van Haaften G; Department of Medical Genetics, University Medical Center Utrecht, University of Utrecht, Utrecht, The Netherlands. G.vanHaaften@umcutrecht.nl.
  • Park SM; Department of Clinical Genetics, Addenbrooke's Treatment Centre, Cambridge University Hospitals NHS Foundation Trust, Hills Road, Cambridge, CB2 0QQ, UK. soo-mi.park@addenbrookes.nhs.uk.
  • van der Smagt JJ; Department of Medical Genetics, University Medical Center Utrecht, University of Utrecht, Utrecht, The Netherlands. j.j.vandersmagt@umcutrecht.nl.
  • Bugiani M; Department of Pathology, VU University Medical Center, Amsterdam, the Netherlands. m.bugiani@vumc.nl.
  • Maher ER; Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK. erm1000@medschl.cam.ac.uk.
Acta Neuropathol Commun ; 2: 148, 2014 Dec 05.
Article em En | MEDLINE | ID: mdl-25476234
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades da Pele / Anormalidades Múltiplas / Mutação em Linhagem Germinativa / Canal de Liberação de Cálcio do Receptor de Rianodina / Hipertermia Maligna Idioma: En Ano de publicação: 2014 Tipo de documento: Article
Texto completo
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XML
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades da Pele / Anormalidades Múltiplas / Mutação em Linhagem Germinativa / Canal de Liberação de Cálcio do Receptor de Rianodina / Hipertermia Maligna Idioma: En Ano de publicação: 2014 Tipo de documento: Article