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

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 its pathog...

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Detalles Bibliográficos
Autores principales: Yan, Wei, Zhang, Bin, Wang, Huijun, Mo, Ran, Jiang, Xingyuan, Qin, Wen, Ma, Lin, Lin, Zhimiao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8170820/
https://www.ncbi.nlm.nih.gov/pubmed/34074347
http://dx.doi.org/10.1186/s41065-021-00184-y

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