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KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection
Authors:Lauren Badalato  Sali M. K. Farhan  Allison A. Dilliott  CareRare Canada Consortium  Dennis E. Bulman  Robert A. Hegele  Sharan L. Goobie
Affiliation:1. Faculty of Medicine, Department of Genetics, Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada;2. Department of Biochemistry and Medicine, Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada;3. Faculty of Medicine, Departments of Pediatrics, Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada;4. Division of Medical Genetics, Department of Pediatrics, London Health Sciences Centre, Western University, London, Ontario, Canada;5. Medical Genetics, Department of Pediatrics, IWK Health Centre, Dalhousie University, Halifax, Nova Scotia, Canada
Abstract:
Keywords:whole exome sequencing  Kabuki syndrome  CHARGE syndrome  KMT2D  MLL2
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