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Article

Genetic Variants Associated with Port-Wine Stains.

PloS one - 1 Jan 2015

Frigerio Alice, Wright Karol, Wooderchak-Donahue Whitney, Tan Oon T, Margraf Rebecca, Stevenson David A, Grimmer J Fredrik, Bayrak-Toydemir Pinar

Abstract excerpt

BACKGROUND: Port-wine stains (PWS) are capillary malformations, typically located in the dermis of the head and neck, affecting 0.3% of the population. Current theories suggest that port-wine stains are caused by somatic mutations that disrupt vascular development. OBJECTIVES: Understanding PWS genetic determinants could provide insight into new treatments. METHODS: Our study used a custom next generation...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 26192947
DOI: 10.1371/journal.pone.0133158
PMCID: PMC4508108

Genes

GNAQ
RASA1

Variants

Provenance

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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