Mutations inPIK3R1Cause 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, et al.


The American Journal of Human Genetics




11 July 2013

Copyright © 2013, Elsevier

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