Article
RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.
Human mutation - 1 Dec 2013
Revencu Nicole, Boon Laurence M, Mendola Antonella, Cordisco Maria Rosa, Dubois Josée, Clapuyt Philippe, Hammer Frank, Amor David J, Irvine Alan D, Baselga Eulalia, Dompmartin Anne, Syed Samira, Martin-Santiago Ana, Ades Lesley, Collins Felicity, Smith Janine, Sandaradura Sarah, Barrio Victoria R, Burrows Patricia E, Blei Francine, Cozzolino Mariarosaria, Brunetti-Pierri Nicola, Vicente Asuncion, Abramowicz Marc, Désir Julie, Vilain Catheline, Chung Wendy K, Wilson Ashley, Gardiner Carol A, Dwight Yim, Lord David J E, Fishman Leona, Cytrynbaum Cheryl, Chamlin Sarah, Ghali Fred, Gilaberte Yolanda, Joss Shelagh, Boente Maria Del C, Léauté-Labrèze Christine, Delrue Marie-Ange, Bayliss Susan, Martorell Loreto, González-Enseñat Maria-Antonia, Mazereeuw-Hautier Juliette, O'Donnell Brid, Bessis Didier, Pyeritz Reed E, Salhi Aicha, Tan Oon T, Wargon Orli, Mulliken John B, Vikkula Miikka
Abstract excerpt
Capillary malformation-arteriovenous malformation (CM-AVM) is an autosomal-dominant disorder, caused by heterozygous RASA1 mutations, and manifesting multifocal CMs and high risk for fast-flow lesions. A limited number of patients have been reported, raising the question of the phenotypic borders. We identified new patients with a clinical diagnosis of CM-AVM, and patients with overlapping phenotypes. RASA1 was...
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