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Article

Capillary Venous Malformation With Undergrowth and Activating PIK3CA Variant: An Underrecognized Phenotype.

Pediatric dermatology - 1 Jan 2026

Ries Alexa G, Barry Kelly K, Thiessen Adam, Plunk Matthew R, King David M, Holland Kristen E, Carlberg Valerie M

Abstract excerpt

Congenital vascular malformations associated with segmental overgrowth and PIK3CA variants are well-documented and are classified within the PIK3CA-related overgrowth spectrum (PROS), yet PIK3CA-associated segmental undergrowth is a less understood entity. We present a case of a patient with a capillary venous malformation (CVM) and limb undergrowth associated with a pathogenic PIK3CA variant (p.Glu453Lys). An...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 40781947
DOI: 10.1111/pde.16009

Genes

PIK3CA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

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