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Article

Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome.

American journal of human genetics - 8 Jun 2012

Kurek Kyle C, Luks Valerie L, Ayturk Ugur M, Alomari Ahmad I, Fishman Steven J, Spencer Samantha A, Mulliken John B, Bowen Margot E, Yamamoto Guilherme L, Kozakewich Harry P W, Warman Matthew L

Abstract excerpt

Congenital lipomatous overgrowth with vascular, epidermal, and skeletal anomalies (CLOVES) is a sporadically occurring, nonhereditary disorder characterized by asymmetric somatic hypertrophy and anomalies in multiple organs. We hypothesized that CLOVES syndrome would be caused by a somatic mutation arising during early embryonic development. Therefore, we employed massively parallel sequencing to search for...

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Identifiers

PMID: 22658544
DOI: 10.1016/j.ajhg.2012.05.006
PMCID: PMC3370283

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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