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Article

Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly

27 Dec 2018

Abstract excerpt

Generalized lymphatic anomaly (GLA) is a vascular disorder characterized by diffuse or multifocal lymphatic malformations (LMs). The etiology of GLA is poorly understood. We identified four distinct somatic PIK3CA variants (Glu542Lys, Gln546Lys, His1047Arg, and His1047Leu) in tissue samples from five out of nine patients with GLA. These same PIK3CA variants occur in PIK3CA-related overgrowth spectrum and cause...

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PMID: 30591517
DOI: 10.1084/jem.20181353

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