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De novo WNT5A‐associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype
Authors:T. Paton  C. Marshall  R. Silver  J.L. Lohr  H.G. Yntema  H. Venselaar  H. Kayserili  B. van Bon  G. Seaward  FORGE Canada Consortium  H.G. Brunner  D. Chitayat
Affiliation:1. The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada;2. The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Toronto, ON, Canada;3. Lillehei Heart Institute, University of Minnesota, Minneapolis, MN, USA;4. Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands;5. Medical Genetics Department, ?stanbul Medical Faculty, Istanbul University, Istanbul, Turkey;6. Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada;7. Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada
Abstract:
Keywords:autosomal dominant  Robinow syndrome  skeletal dysplasia  WNT5A
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