المؤلفون: Hamilton MJ; West of Scotland Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK.; Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK., Caswell RC; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, Devon, UK., Canham N; North West Thames Regional Genetics Service, London North West Healthcare NHS Trust, Harrow, UK., Cole T; West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK., Firth HV; East Anglian Regional Genetics Service, Cambridge University Hospitals NHS Trust, Cambridge, UK.; Wellcome Trust Sanger Institute, Hinxton, UK., Foulds N; Wessex Clinical Genetics Service, Southampton University Hospitals NHS Trust, Southampton, UK., Heimdal K; Section of Clinical Genetics, Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., Hobson E; Yorkshire Regional Clinical Genetics Service, The Leeds Teaching Hospitals NHS Trust, Leeds, UK., Houge G; Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway., Joss S; West of Scotland Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK., Kumar D; Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK., Lampe AK; South East of Scotland Clinical Genetic Service, Western General Hospital, Edinburgh, UK., Maystadt I; Centre de Génétique Humaine, Institut de Pathologie et de Génétique (IPG), Gosselies, Belgium., McKay V; Merseyside Genetics Service, Liverpool Women's NHS Foundation Trust, Liverpool, UK., Metcalfe K; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre, School of Biological Sciences, University of Manchester, Manchester, UK., Newbury-Ecob R; Clinical Genetics Service, University Hospital Bristol NHS Foundation Trust, Bristol, UK., Park SM; East Anglian Regional Genetics Service, Cambridge University Hospitals NHS Trust, Cambridge, UK., Robert L; South East Thames Regional Clinical Genetics Service, Guy's and St Thomas' NHS Foundation, London, UK., Rustad CF; Section of Clinical Genetics, Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., Wakeling E; North West Thames Regional Genetics Service, London North West Healthcare NHS Trust, Harrow, UK., Wilkie AOM; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK., Study TDDD; Wellcome Trust Sanger Institute, Hinxton, UK., Twigg SRF; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK., Suri M; Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK.

المصدر: Journal of medical genetics [J Med Genet] 2018 Jan; Vol. 55 (1), pp. 28-38. Date of Electronic Publication: 2017 Oct 11.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: CDC2 Protein Kinase/*chemistry , CDC2 Protein Kinase/*genetics , Developmental Disabilities/*genetics , Intellectual Disability/*genetics , Mutation/*genetics, Adolescent ; Child ; Conserved Sequence ; Female ; Heterozygote ; Humans ; Male ; Models, Molecular ; Mutation, Missense/genetics ; Protein Domains ; Syndrome ; Thermodynamics