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Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy
Authors:My Linh Thibodeau  Colin H. Peters  Katelin N. Townsend  Yaoqing Shen  Glenda Hendson  Shelin Adam  Kathryn Selby  Patrick M. Macleod  Cynthia Gershome  Peter Ruben  Steven J. M. Jones  the FORGE Canada Consortium  Jan M. Friedman  William T. Gibson  Gabriella A. Horvath
Affiliation:1. Department of Medical Genetics, University of British Columbia, Vancouver, Canada;2. Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, Canada;3. BC Children's Hospital Research Institute, University of British Columbia, Vancouver, Canada;4. Canada's Michael Smith Genome Sciences Centre, Vancouver, Canada;5. Department of Anatomic Pathology, University of British Columbia, Vancouver, Canada;6. Department of Pediatrics, Division of Pediatric Neurology, University of British Columbia, Vancouver, Canada;7. Victoria General Hospital, Division of Medical Genetics, Victoria, Canada;8. Department of Pediatrics, Division of Biochemical Diseases, University of British Columbia, Vancouver, Canada
Abstract:
Keywords:brachydactyly  channelopathy  hearing loss  intellectual disability  neuromuscular diseases  peripheral neuropathy  retinopathy  scoliosis  skeletal  TRPV4
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