Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disorders

Coleman, JAC; Gass, JM; Srikanth, S; Pauly, R; Ziats, CA; Everman, DB; Skinner, SA; Bell, S; Louie, RJ; Cascio, L; Patterson, WG; Jones, JR; Di Donato, N; Stevenson, RE; Boccuto, L

Boccuto, L (通讯作者)，Greenwood Genet Ctr, Greenwood, SC 29646 USA.;Boccuto, L (通讯作者)，Clemson Univ, Coll Behav Social & Hlth Sci, Sch Nursing, Clemson, SC 29634 USA.

HUMAN MOLECULAR GENETICS, 2023; 32 (9): 1457

Abstract

Mosaic variants in the PIK3CA gene, encoding the catalytic subunit of phosphoinositide 3-kinase (PI3K), produce constitutive PI3K activation, which ca......

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