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

doi:10.2340/00015555-2835

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

Acta dermato-venereologica - 7 Feb 2018

Maruani Annabel, Durieux-Verde Marine, Mazereeuw-Hautier Juliette, Boccara Olivia, Martin Ludovic, Chiaverini Christine, Eschard Catherine, Bénéton Nathalie, Vabres Pierre, Balguerie Xavier, Plantin Patrice, Bessis Didier, Barbarot Sébastien, Dadban Ali, Droitcourt Catherine, Berthelot Aline, Lorette Gérard, Leducq Sophie, Samimi Mahtab, Andres Christian, Caille Agnès, Vourc'h Patrick

Abstract excerpt

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 cohort of children, age range 2-12 years, with sporadic occurrence of capillary malformation (CM) of the legs,...

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PMID: 29110021
DOI: 10.2340/00015555-2835

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RASA1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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