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Article

Molecular Diagnosis of Mosaic Overgrowth Syndromes Using a Custom-Designed Next-Generation Sequencing Panel.

The Journal of molecular diagnostics : JMD - 1 Jul 2017

Chang Fengqi, Liu Liu, Fang Erica, Zhang Guangcheng, Chen Tiansheng, Cao Kajia, Li Yanchun, Li Marilyn M

Abstract excerpt

Recent studies have discovered a group of overgrowth syndromes, such as congenital lipomatous overgrowth with vascular, epidermal, and skeletal anomalies (CLOVES) syndrome, Proteus syndrome, and megalencephaly-capillary malformation-polymicrogyria (MCAP) syndrome, are caused by somatic activating variants in genes involved in the phosphatidylinositol 3-kinase/AKT/mechanistic target of rapamycin pathway. Because...

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Source

Identifiers

PMID: 28502725
DOI: 10.1016/j.jmoldx.2017.04.006

Genes

AKT1

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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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