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Article

Alpelisib to treat CLOVES syndrome, a member of the PIK3CA-related overgrowth syndrome spectrum

2022-02-15

Abstract excerpt

CLOVES syndrome is a rare congenital overgrowth disorder caused by mutations in the phosphatidylinositol 3-kinase catalytic subunit alpha (PIK3CA) gene. It is part of the PIK3CA-related overgrowth syndrome (PROS) spectrum and its treatment is challenging. PROS malformations have traditionally been treated by surgery, but research into pharmacological treatments capable of blocking the PIK/AKT/mTOR pathway has incr...

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Literature Corpus work
ff991dec-7b4a-56b6-a66c-68bc7677eaff
DOI
10.22541/au.163890275.58839981/v3
Open publication

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