Article
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations.
Human mutation - 1 Jul 2008
Revencu Nicole, Boon Laurence M, Mulliken John B, Enjolras Odile, Cordisco Maria Rosa, Burrows Patricia E, Clapuyt Philippe, Hammer Frank, Dubois Josée, Baselga Eulalia, Brancati Francesco, Carder Robin, Quintal José Miguel Ceballos, Dallapiccola Bruno, Fischer Gayle, Frieden Ilona J, Garzon Maria, Harper John, Johnson-Patel Jennifer, Labrèze Christine, Martorell Loreto, Paltiel Harriet J, Pohl Annette, Prendiville Julie, Quere Isabelle, Siegel Dawn H, Valente Enza Maria, Van Hagen Annet, Van Hest Liselot, Vaux Keith K, Vicente Asuncion, Weibel Lisa, Chitayat David, Vikkula Miikka
Abstract excerpt
Capillary malformation-arteriovenous malformation (CM-AVM) is a newly recognized autosomal dominant disorder, caused by mutations in the RASA1 gene in six families. Here we report 42 novel RASA1 mutations and the associated phenotype in 44 families. The penetrance and de novo occurrence were high. All affected individuals presented multifocal capillary malformations (CMs), which represent the hallmark of the...
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