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Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature.
Luco, Stephanie M; Pohl, Daniela; Sell, Erick; Wagner, Justin D; Dyment, David A; Daoud, Hussein.
Affiliation
  • Luco SM; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, K1H 8L1, Canada. sluco032@uottawa.ca.
  • Pohl D; Division of Pediatric Neurology, Children's Hospital of Eastern Ontario, Ottawa, K1H 8L1, ON, Canada. dpolh@cheo.on.ca.
  • Sell E; Division of Pediatric Neurology, Children's Hospital of Eastern Ontario, Ottawa, K1H 8L1, ON, Canada. esell@cheo.on.ca.
  • Wagner JD; Children's Hospital of Eastern Ontario Research Institute, Ottawa, K1H 8L1, ON, Canada. jwagner@cheo.on.ca.
  • Dyment DA; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, K1H 8L1, Canada. ddyment@cheo.on.ca.
  • Daoud H; Children's Hospital of Eastern Ontario Research Institute, Ottawa, K1H 8L1, ON, Canada. ddyment@cheo.on.ca.
BMC Med Genet ; 17: 15, 2016 Feb 27.
Article in En | MEDLINE | ID: mdl-26922654

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Protein-Tyrosine Kinases / Protein Serine-Threonine Kinases / Intellectual Disability Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Female / Humans / Infant / Male Language: En Journal: BMC Med Genet Journal subject: GENETICA MEDICA Year: 2016 Type: Article Affiliation country: Canada

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Protein-Tyrosine Kinases / Protein Serine-Threonine Kinases / Intellectual Disability Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Female / Humans / Infant / Male Language: En Journal: BMC Med Genet Journal subject: GENETICA MEDICA Year: 2016 Type: Article Affiliation country: Canada