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De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome.
Costain, Gregory; Callewaert, Bert; Gabriel, Heinz; Tan, Tiong Y; Walker, Susan; Christodoulou, John; Lazar, Tamas; Menten, Björn; Orkin, Julia; Sadedin, Simon; Snell, Meaghan; Vanlander, Arnaud; Vergult, Sarah; White, Susan M; Scherer, Stephen W; Hayeems, Robin Z; Blaser, Susan; Wodak, Shoshana J; Chitayat, David; Marshall, Christian R; Meyn, M Stephen.
Affiliation
  • Costain G; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada. gregory.costain@sickkids.ca.
  • Callewaert B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • Gabriel H; Center for Genomics and Transcriptomics, Eberhard Karls University of Tübingen, Tübingen, Germany.
  • Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, & Department of Paediatrics, University of Melbourne, Melbourne, Australia.
  • Walker S; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.
  • Christodoulou J; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
  • Lazar T; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, & Department of Paediatrics, University of Melbourne, Melbourne, Australia.
  • Menten B; Neurodevelopmental Genomics Research Group, Murdoch Children's Research Institute, Melbourne, Australia.
  • Orkin J; VIB-VUB Structural Biology Research Center, Brussels, Belgium.
  • Sadedin S; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • Snell M; Department of Paediatrics, University of Toronto, Toronto, ON, Canada.
  • Vanlander A; Division of Paediatric Medicine, The Hospital for Sick Children, Toronto, ON, Canada.
  • Vergult S; Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, ON, Canada.
  • White SM; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, & Department of Paediatrics, University of Melbourne, Melbourne, Australia.
  • Scherer SW; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.
  • Hayeems RZ; Centre for Genetic Medicine, The Hospital for Sick Children, Toronto, ON, Canada.
  • Blaser S; Department of Pediatrics, Ghent University, Ghent, Belgium.
  • Wodak SJ; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • Chitayat D; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, & Department of Paediatrics, University of Melbourne, Melbourne, Australia.
  • Marshall CR; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.
  • Meyn MS; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
Genet Med ; 21(4): 1021-1026, 2019 04.
Article in En | MEDLINE | ID: mdl-30293988
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Full text: 1 Database: MEDLINE Main subject: Genetic Predisposition to Disease / Rac GTP-Binding Proteins / Neurodevelopmental Disorders / Intellectual Disability Limits: Adult / Child, preschool / Humans / Newborn Language: En Year: 2019 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Genetic Predisposition to Disease / Rac GTP-Binding Proteins / Neurodevelopmental Disorders / Intellectual Disability Limits: Adult / Child, preschool / Humans / Newborn Language: En Year: 2019 Type: Article