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Article

Heredity of port-wine stains: investigation of families without a RASA1 mutation.

Journal of cosmetic and laser therapy : official publication of the European Society for Laser Dermatology - 1 Jan 2015

Troilius Rubin Agneta, Lauritzen Edgar, Ljunggren Bo, Revencu Nicole, Vikkula Mikka, Svensson Åke

Abstract excerpt

BACKGROUND: The prevalence of capillary malformations, also known as port-wine stains (PWS), is 0.3%. Familial segregation can occur. The capillary malformation-arteriovenous malformation (CM-AVM) phenotype is caused by mutations in the RASA1 gene. In PWS familial cases, the inheritance is considered to be autosomal dominant with variable penetrance. OBJECTIVE: Investigation of the heredity of PWS among patients...

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Identifiers

PMID: 25602354
DOI: 10.3109/14764172.2015.1007060
PMCID: PMC4975081

Genes

RASA1

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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