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Mutations in PIK3R1 cause SHORT syndrome.
Dyment, David A; Smith, Amanda C; Alcantara, Diana; Schwartzentruber, Jeremy A; Basel-Vanagaite, Lina; Curry, Cynthia J; Temple, I Karen; Reardon, William; Mansour, Sahar; Haq, Mushfequr R; Gilbert, Rodney; Lehmann, Ordan J; Vanstone, Megan R; Beaulieu, Chandree L; Majewski, Jacek; Bulman, Dennis E; O'Driscoll, Mark; Boycott, Kym M; Innes, A Micheil.
Affiliation
  • Dyment DA; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada. ddyment@cheo.on.ca
Am J Hum Genet ; 93(1): 158-66, 2013 Jul 11.
Article in En | MEDLINE | ID: mdl-23810382
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Frameshift Mutation / Class Ia Phosphatidylinositol 3-Kinase / Growth Disorders / Hypercalcemia / Metabolic Diseases / Nephrocalcinosis Type of study: Prognostic_studies Limits: Adolescent / Child / Child, preschool / Female / Humans / Male / Newborn Language: En Journal: Am J Hum Genet Year: 2013 Document type: Article Affiliation country: Canadá Country of publication: Estados Unidos
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Frameshift Mutation / Class Ia Phosphatidylinositol 3-Kinase / Growth Disorders / Hypercalcemia / Metabolic Diseases / Nephrocalcinosis Type of study: Prognostic_studies Limits: Adolescent / Child / Child, preschool / Female / Humans / Male / Newborn Language: En Journal: Am J Hum Genet Year: 2013 Document type: Article Affiliation country: Canadá Country of publication: Estados Unidos