RASA1 mosaic mutations in patients with capillary malformation-arteriovenous malformation

Abstract : Capillary malformation-arteriovenous malformation is an autosomal dominant disorder, characterised by capillary malformations and increased risk of fast-flow vascular malformations, caused by loss-of-function mutations in the RASA1 or EPHB4 genes. Around 25% of the patients do not seem to carry a germline mutation in either one of these two genes. Even if other genes could be involved, some individuals may have mutations in the known genes that escaped detection by less sensitive techniques. We tested the hypothesis that mosaic mutations could explain some of previously negative cases.
Type de document :
Article dans une revue
Liste complète des métadonnées

https://hal-normandie-univ.archives-ouvertes.fr/hal-02268420
Contributeur : Marion Gerard <>
Soumis le : mardi 20 août 2019 - 21:27:14
Dernière modification le : mercredi 21 août 2019 - 01:09:06

Identifiants

Citation

Nicole Revencu, Elodie Fastre, Marie Ravoet, Raphaël Helaers, Pascal Brouillard, et al.. RASA1 mosaic mutations in patients with capillary malformation-arteriovenous malformation. Journal of Medical Genetics, BMJ Publishing Group, 2019, pp.jmedgenet-2019-106024. ⟨10.1136/jmedgenet-2019-106024⟩. ⟨hal-02268420⟩

Partager

Métriques

Consultations de la notice

26