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Article

Causal somatic mutations in urine DNA from persons with the CLOVES subgroup of the PIK3CA-related overgrowth spectrum.

Clinical genetics - 1 May 2018

Michel M E, Konczyk D J, Yeung K S, Murillo R, Vivero M P, Hall A M, Zurakowski D, Adams D, Gupta A, Huang A Y, Chung B H Y, Warman M L

Abstract excerpt

Congenital lipomatous overgrowth with vascular, epidermal, and skeletal (CLOVES) anomalies and Klippel-Trenaunay (KTS) syndromes are caused by somatic gain-of-function mutations in PIK3CA, encoding a catalytic subunit of phosphoinositide 3-kinase. Affected tissue is needed to find mutations, as mutant alleles are not detectable in blood. Because some patients with CLOVES develop Wilms tumor, we tested urine as a...

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Identifiers

PMID: 29231959
DOI: 10.1111/cge.13195
PMCID: PMC5899663

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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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