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Updated: Apr 6, 2026

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Genetic Variants Associated with Port-Wine Stains

Alice Frigerio1, Karol Wright2, Whitney Wooderchak-Donahue3

  • 1Carolyn and Peter Lynch Center for Laser and Reconstructive Surgery, Division of Facial Plastic and Reconstructive Surgery, Department of Otology and Laryngology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, United States of America.

Plos One
|July 21, 2015
PubMed
Summary

Genetic analysis reveals GNAQ mutations are the primary cause of port-wine stains (PWS). This finding advances understanding of PWS and aids in developing targeted treatments for this common vascular malformation.

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