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Article

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

Human molecular genetics - 20 Apr 2023

Cooley Coleman Jessica A, Gass Jennifer M, Srikanth Sujata, Pauly Rini, Ziats Catherine A, Everman David B, Skinner Steven A, Bell Shannon, Louie Raymond J, Cascio Lauren, Patterson Wesley G, Jones Julie R, Di Donato Nataliya, Stevenson Roger E, Boccuto Luigi

Abstract excerpt

Mosaic variants in the PIK3CA gene, encoding the catalytic subunit of phosphoinositide 3-kinase (PI3K), produce constitutive PI3K activation, which causes PIK3CA-related overgrowth spectrum disorders. To date, fewer than 20 patients have been described with germline alterations in PIK3CA. In this study, we describe three unrelated individuals with overgrowth and germline PIK3CA variants. These variants were...

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Share to Class I Phosphatidylinositol 3-Kinases
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36458889
DOI: 10.1093/hmg/ddac296

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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