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Article

Prenatal diagnosis of CLOVES syndrome confirmed by detection of a mosaic PIK3CA mutation in cultured amniocytes.

American journal of medical genetics. Part A - 1 Oct 2014

Emrick Lisa T, Murphy Lauren, Shamshirsaz Alireza A, Ruano Rodrigo, Cassady Christopher I, Liu Liu, Chang Fengqi, Sutton V Reid, Li Marilyn, Van den Veyver Ignatia B

Abstract excerpt

Congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies (CLOVES) syndrome, a segmental overgrowth syndrome, is caused by post zygotic somatic mutations in PIK3CA, a gene involved in the receptor tyrosine kinase phosphatidylinositol 3-kinase (PI3)-AKT growth-signaling pathway. Prenatal ultrasound...

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Identifiers

PMID: 25044986
DOI: 10.1002/ajmg.a.36672
PMCID: PMC4496426

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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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