Somatic frameshift mutation in PIK3CA causes CLOVES syndrome by provoking PI3K/AKT/mTOR pathway

Somatic frameshift mutation in PIK3CA causes CLOVES syndrome by provoking PI3K/AKT/mTOR pathway

Abstract Background CLOVES syndrome (OMIM# 612918) is a rare overgrowth disorder resulted from mosaic gain-of-function mutations in the PIK3CA gene. All the reported CLOVES-associated PIK3CA mutations are missense mutations affecting certain residues. We aim to investigate underlying mutation and it...

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Bibliographic Details
Main Authors: Wei Yan, Bin Zhang, Huijun Wang, Ran Mo, Xingyuan Jiang, Wen Qin, Lin Ma, Zhimiao Lin
Format: Article
Language:English
Published: BMC 2021-06-01
Series:Hereditas
Subjects:
PIK3CA
CLOVES syndrome
Somatic mutation
PI3K/AKT/mTOR pathway
Online Access:https://doi.org/10.1186/s41065-021-00184-y

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