Search for RASA1 Variants in Capillary Malformations of the Legs in 113 Children: Results from the French National Paediatric Cohort CONAPE

Search for RASA1 Variants in Capillary Malformations of the Legs in 113 Children: Results from the French National Paediatric Cohort CONAPE

Patients with an inherited autosomal-dominant disorder, capillary malformation–arteriovenous malformation (CM-AVM), frequently have mutations in Ras P21 protein activator 1 (RASA1). The aims of this study were to determine the prevalence of germline RASA1 variants in a French multicentre national co...

Full description

Bibliographic Details
Main Authors: Annabel Maruani, Marine Durieux-Verde, Juliette Mazereeuw-Hautier, Olivia Boccara, Ludovic Martin, Christine Chiaverini, Catherine Eschard, Nathalie Bénéton, Pierre Vabres, Xavier Balguerie, Patrice Plantin, Didier Bessis, Sébastien Barbarot, Ali Dadban, Catherine Droitcourt, Aline Berthelot, Gérard Lorette, Sophie Leducq, Mahtab Samimi, Christian Andres, Agnès Caille, Patrick Vourc'h, Groupe de Recherche de la Société Française de Dermatologie
Format: Article
Language:English
Published: Society for Publication of Acta Dermato-Venereologica 2017-11-01
Series:Acta Dermato-Venereologica
Subjects:
RASA1
mutations
variants
polymorphism
capillarymalformations
vascularanomalies
Online Access: https://www.medicaljournals.se/acta/content/html/10.2340/00015555-2835

Internet

https://www.medicaljournals.se/acta/content/html/10.2340/00015555-2835

Similar Items