Article
Mutations in PIK3R1 cause SHORT syndrome.
American journal of human genetics - 11 Jul 2013
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
Abstract excerpt
SHORT syndrome is a rare, multisystem disease characterized by short stature, anterior-chamber eye anomalies, characteristic facial features, lipodystrophy, hernias, hyperextensibility, and delayed dentition. As part of the FORGE (Finding of Rare Disease Genes) Canada Consortium, we studied individuals with clinical features of SHORT syndrome to identify the genetic etiology of this rare disease. Whole-exome...
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