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De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy.
Tarailo-Graovac, Maja; Zahir, Farah R; Zivkovic, Irena; Moksa, Michelle; Selby, Kathryn; Sinha, Sunita; Nislow, Corey; Stockler-Ipsiroglu, Sylvia G; Sheffer, Ruth; Saada-Reisch, Ann; Friedman, Jan M; van Karnebeek, Clara D M; Horvath, Gabriella A.
Affiliation
  • Tarailo-Graovac M; Centre for Molecular Medicine and Therapeutics, BC Children's Research Institute, University of British Columbia, Vancouver, Canada.
  • Zahir FR; Departments of Biochemistry, Molecular Biology and Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
  • Zivkovic I; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, Canada.
  • Moksa M; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
  • Selby K; University of British Columbia, Vancouver, Canada.
  • Sinha S; Department of Microbiology and Immunology, University of British Columbia, Vancouver, Canada.
  • Nislow C; Department of Pediatrics, Division of Pediatric Neurology, University of British Columbia, Vancouver, Canada.
  • Stockler-Ipsiroglu SG; Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, Canada.
  • Sheffer R; Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, Canada.
  • Saada-Reisch A; Department of Pediatrics, Division of Biochemical Diseases, University of British Columbia, Vancouver, Canada.
  • Friedman JM; Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • van Karnebeek CDM; Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Horvath GA; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
Mol Genet Genomic Med ; 7(10): e00961, 2019 10.
Article in En | MEDLINE | ID: mdl-31475481
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Hereditary Sensory and Autonomic Neuropathies / Dynamins Type of study: Diagnostic_studies Limits: Humans / Male Language: En Journal: Mol Genet Genomic Med Year: 2019 Document type: Article Affiliation country:
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Hereditary Sensory and Autonomic Neuropathies / Dynamins Type of study: Diagnostic_studies Limits: Humans / Male Language: En Journal: Mol Genet Genomic Med Year: 2019 Document type: Article Affiliation country: