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Article

Thrombosis risk factors in PIK3CA‐related overgrowth spectrum and Proteus syndrome

6 Sept 2019

Abstract excerpt

Increased risk of thromboembolism has been recognized in individuals with mosaic overgrowth disorders, Proteus syndrome (PS) and PIK3CA-related overgrowth spectrum (PROS), including Klippel-Trenaunay syndrome and CLOVES syndrome. PS and PROS have distinct, yet overlapping clinical findings and are caused by somatic pathogenic variants in the PI3K/AKT gene signaling pathway. PS is caused by a single somatic...

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PMID: 31490637
DOI: 10.1002/ajmg.c.31735

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