PIK3CA

Publications

Mirzaa G et al. PIK3CA-Related Segmental Overgrowth. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. 2013 Aug 15.  PMID: 23946963.

Keppler-Noreuil KM et al. PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation. Am J Med Genet A. 2015;167A(2):287-95.  PMID: 25557259.

Mirzaa G et al. PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution. JCI Insight. 2016;16;1(9).  PMID: 27631024.

Parker V et al. Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum. Genet Med. 2019;21(5):1189-1198.  PMID: 30270358.