A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations

A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations

Abstract Background PIK3CA-related disorders include vascular malformations and overgrowth of various tissues that are caused by postzygotic, somatic variants in the gene encoding phosphatidylinositol-3-kinase (PI3K) catalytic subunit alpha. These mutations result in activation of the PI3K/AKT/mTOR...

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Bibliographic Details
Main Authors: Guillaume Canaud, Adrienne M. Hammill, Denise Adams, Miikka Vikkula, Kim M. Keppler-Noreuil
Format: Article
Language:English
Published: BMC 2021-07-01
Series:Orphanet Journal of Rare Diseases
Subjects:
PIK3CA
PI3K
PROS
Vascular malformation
Sirolimus
Alpelisib
Online Access:https://doi.org/10.1186/s13023-021-01929-8

Internet

https://doi.org/10.1186/s13023-021-01929-8

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