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Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy.
Thibodeau, My Linh; Peters, Colin H; Townsend, Katelin N; Shen, Yaoqing; Hendson, Glenda; Adam, Shelin; Selby, Kathryn; Macleod, Patrick M; Gershome, Cynthia; Ruben, Peter; Jones, Steven J M; Friedman, Jan M; Gibson, William T; Horvath, Gabriella A.
  • Thibodeau ML; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
  • Peters CH; Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, Canada.
  • Townsend KN; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
  • Shen Y; BC Children's Hospital Research Institute, University of British Columbia, Vancouver, Canada.
  • Hendson G; Canada's Michael Smith Genome Sciences Centre, Vancouver, Canada.
  • Adam S; Department of Anatomic Pathology, University of British Columbia, Vancouver, Canada.
  • Selby K; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
  • Macleod PM; Department of Pediatrics, Division of Pediatric Neurology, University of British Columbia, Vancouver, Canada.
  • Gershome C; Victoria General Hospital, Division of Medical Genetics, Victoria, Canada.
  • Ruben P; Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, Canada.
  • Jones SJM; Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, Canada.
  • Friedman JM; Canada's Michael Smith Genome Sciences Centre, Vancouver, Canada.
  • Horvath GA; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
Am J Med Genet A ; 173(11): 3087-3092, 2017 Nov.
Article en En | MEDLINE | ID: mdl-28898540
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedades del Sistema Nervioso Periférico / Canales Catiónicos TRPV / Discapacidad Intelectual / Enfermedades Neuromusculares Límite: Female / Humans / Infant / Male Idioma: En Año: 2017 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedades del Sistema Nervioso Periférico / Canales Catiónicos TRPV / Discapacidad Intelectual / Enfermedades Neuromusculares Límite: Female / Humans / Infant / Male Idioma: En Año: 2017 Tipo del documento: Article