Article
Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations.
American journal of human genetics - 1 Dec 2003
Eerola Iiro, Boon Laurence M, Mulliken John B, Burrows Patricia E, Dompmartin Anne, Watanabe Shoji, Vanwijck Romain, Vikkula Miikka
Abstract excerpt
Capillary malformation (CM), or "port-wine stain," is a common cutaneous vascular anomaly that initially appears as a red macular stain that darkens over years. CM also occurs in several combined vascular anomalies that exhibit hypertrophy, such as Sturge-Weber syndrome, Klippel-Trenaunay syndrome, and Parkes Weber syndrome. Occasional familial segregation of CM suggests that there is genetic susceptibility,...
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