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

• Main Authors: Annabel Maruani (Author), Marine Durieux-Verde (Author), Juliette Mazereeuw-Hautier (Author), Olivia Boccara (Author), Ludovic Martin (Author), Christine Chiaverini (Author), Catherine Eschard (Author), Nathalie Bénéton (Author), Pierre Vabres (Author), Xavier Balguerie (Author), Patrice Plantin (Author), Didier Bessis (Author), Sébastien Barbarot (Author), Ali Dadban (Author), Catherine Droitcourt (Author), Aline Berthelot (Author), Gérard Lorette (Author), Sophie Leducq (Author), Mahtab Samimi (Author), Christian Andres (Author), Agnès Caille (Author), Patrick Vourc'h (Author), Groupe de Recherche de la Société Française de Dermatologie (Author)
• Format: Book
• Published: Medical Journals Sweden, 2017-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...