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Sturge-Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ NEJM 368:1971-1979, Shirley, M.,et al, 2013 See this aricle in Pubmed Article Abstract The Sturge-Weber syndrome and port-wine stains are caused by a somatic activating mutation in GNAQ. This finding confirms a long-standing hypothesis.

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