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Case reports: novel TUBG1 mutations with milder neurodevelopmental presentations.
Yuen, Yue T K; Guella, Ilaria; Roland, Elke; Sargent, Michael; Boelman, Cyrus.
Affiliation
  • Yuen YTK; Faculty of Medicine, University of British Columbia, Vancouver, Canada.
  • Guella I; Centre for Applied Neurogenetics, University of British Columbia, Vancouver, Canada.
  • Roland E; Division of Neurology, BC Children's Hospital, Vancouver, Canada.
  • Sargent M; Department of Medical Imaging, BC Children's Hospital, Vancouver, Canada.
  • Boelman C; Division of Neurology, BC Children's Hospital, Vancouver, Canada. cyrus.boelman@cw.bc.ca.
BMC Med Genet ; 20(1): 95, 2019 05 31.
Article in En | MEDLINE | ID: mdl-31151415

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Tubulin / Genetic Predisposition to Disease / Mutation, Missense / Neurodevelopmental Disorders Limits: Child / Female / Humans / Infant / Male Language: En Journal: BMC Med Genet Journal subject: GENETICA MEDICA Year: 2019 Document type: Article Affiliation country: Canada

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Tubulin / Genetic Predisposition to Disease / Mutation, Missense / Neurodevelopmental Disorders Limits: Child / Female / Humans / Infant / Male Language: En Journal: BMC Med Genet Journal subject: GENETICA MEDICA Year: 2019 Document type: Article Affiliation country: Canada