Mutations in PIK3R1 Cause SHORT Syndrome
- Resource Type
- Journal
- Authors
- 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; FORGE Canada Consortium
- Source
- AMERICAN JOURNAL OF HUMAN GENETICS; JUL 11 2013, 93 1, p158-p166, 9p.
- Subject
- Language
- English
- ISSN
- 00029297