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Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.
Hamilton, Mark J; Caswell, Richard C; Canham, Natalie; Cole, Trevor; Firth, Helen V; Foulds, Nicola; Heimdal, Ketil; Hobson, Emma; Houge, Gunnar; Joss, Shelagh; Kumar, Dhavendra; Lampe, Anne Katrin; Maystadt, Isabelle; McKay, Victoria; Metcalfe, Kay; Newbury-Ecob, Ruth; Park, Soo-Mi; Robert, Leema; Rustad, Cecilie F; Wakeling, Emma; Wilkie, Andrew O M; Study, The Deciphering Developmental Disorders; Twigg, Stephen R F; Suri, Mohnish.
Affiliation
  • Hamilton MJ; West of Scotland Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK.
  • Caswell RC; Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK.
  • Canham N; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, Devon, UK.
  • Cole T; North West Thames Regional Genetics Service, London North West Healthcare NHS Trust, Harrow, UK.
  • Firth HV; West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK.
  • Foulds N; East Anglian Regional Genetics Service, Cambridge University Hospitals NHS Trust, Cambridge, UK.
  • Heimdal K; Wellcome Trust Sanger Institute, Hinxton, UK.
  • Hobson E; Wessex Clinical Genetics Service, Southampton University Hospitals NHS Trust, Southampton, UK.
  • Houge G; Section of Clinical Genetics, Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
  • Joss S; Yorkshire Regional Clinical Genetics Service, The Leeds Teaching Hospitals NHS Trust, Leeds, UK.
  • Kumar D; Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.
  • Lampe AK; West of Scotland Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK.
  • Maystadt I; Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.
  • McKay V; South East of Scotland Clinical Genetic Service, Western General Hospital, Edinburgh, UK.
  • Metcalfe K; Centre de Génétique Humaine, Institut de Pathologie et de Génétique (IPG), Gosselies, Belgium.
  • Newbury-Ecob R; Merseyside Genetics Service, Liverpool Women's NHS Foundation Trust, Liverpool, UK.
  • Park SM; 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.
  • Robert L; Clinical Genetics Service, University Hospital Bristol NHS Foundation Trust, Bristol, UK.
  • Rustad CF; East Anglian Regional Genetics Service, Cambridge University Hospitals NHS Trust, Cambridge, UK.
  • Wakeling E; South East Thames Regional Clinical Genetics Service, Guy's and St Thomas' NHS Foundation, London, UK.
  • Wilkie AOM; Section of Clinical Genetics, Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
  • Study TDDD; North West Thames Regional Genetics Service, London North West Healthcare NHS Trust, Harrow, UK.
  • Twigg SRF; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • Suri M; Wellcome Trust Sanger Institute, Hinxton, UK.
J Med Genet ; 55(1): 28-38, 2018 01.
Article in En | MEDLINE | ID: mdl-29021403
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Full text: 1 Database: MEDLINE Main subject: Developmental Disabilities / CDC2 Protein Kinase / Intellectual Disability / Mutation Type of study: Prognostic_studies Limits: Adolescent / Child / Female / Humans / Male Language: En Journal: J Med Genet Year: 2018 Type: Article Affiliation country: United kingdom
Fulltext
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Full text: 1 Database: MEDLINE Main subject: Developmental Disabilities / CDC2 Protein Kinase / Intellectual Disability / Mutation Type of study: Prognostic_studies Limits: Adolescent / Child / Female / Humans / Male Language: En Journal: J Med Genet Year: 2018 Type: Article Affiliation country: United kingdom