Mutations in PIK3R1 cause SHORT syndrome

David A. Dyment*, Amanda C. Smith, Diana Alcantara, Jeremy A. Schwartzentruber, Lina Basel-Vanagaite, Cynthia J. Curry, I. Karen Temple, William Reardon, Sahar Mansour, Mushfequr R. Haq, Rodney Gilbert, Ordan J. Lehmann, Megan R. Vanstone, Chandree L. Beaulieu, Jacek Majewski, Dennis E. Bulman, Mark O'Driscoll, Kym M. Boycott, A. Micheil Innes

*Corresponding author for this work

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Medicine & Life Sciences