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Article

Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies.

American journal of medical genetics. Part C, Seminars in medical genetics - 1 Dec 2016

Keppler-Noreuil Kim M, Parker Victoria E R, Darling Thomas N, Martinez-Agosto Julian A

Abstract excerpt

The phosphatidylinositol-3-kinase (PI3K)/AKT/mTOR signaling pathway plays an essential role in regulation of normal cell growth, metabolism, and survival. Somatic activating mutations in the PI3K/AKT/mTOR pathway are among the most common mutations identified in cancer, and have been shown to cause a spectrum of overgrowth syndromes including PIK3CA-Related Overgrowth Spectrum, Proteus syndrome, and brain...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27860216
DOI: 10.1002/ajmg.c.31531
PMCID: PMC5592089

Genes

PTEN
TSC1
TSC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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