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NID1 variant associated with occipital cephaloceles in a family expressing a spectrum of phenotypes.
McNiven, Vanda; Ito, Yoko A; Hartley, Taila; Kernohan, Kristin; Miller, Elka; Armour, Christine M.
Affiliation
  • McNiven V; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Ito YA; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
  • Hartley T; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
  • Kernohan K; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
  • Miller E; Department of Medical Imaging, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada.
  • Armour CM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
Am J Med Genet A ; 179(5): 837-841, 2019 05.
Article in En | MEDLINE | ID: mdl-30773799
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Genetic Variation / Membrane Glycoproteins / Genetic Predisposition to Disease / Dandy-Walker Syndrome / Encephalocele Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Adult / Female / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2019 Type: Article Affiliation country: Canada
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Genetic Variation / Membrane Glycoproteins / Genetic Predisposition to Disease / Dandy-Walker Syndrome / Encephalocele Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Adult / Female / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2019 Type: Article Affiliation country: Canada