Fiche publication
Date publication
mai 2021
Journal
Journal of internal medicine
Auteurs
Membres identifiés du Cancéropôle Est :
Dr ALBUISSON Juliette
Tous les auteurs :
Legrand A, Pujol C, Durand CM, Mesnil A, Rubera I, Duranton C, Zuily S, Sousa AB, Renaud M, Boucher JL, Pietrancosta N, Adham S, Orssaud C, Marelli C, Casali C, Ziccardi L, Villain N, Ewenczyk C, Durr A, Mignot C, Stevanin G, Billon C, Hureaux M, Jeunemaitre X, Goizet C, Albuisson J
Lien Pubmed
Résumé
Pseudoxanthoma elasticum (PXE) is a recessive disorder involving skin, eyes and arteries, mainly caused by ABCC6 pathogenic variants. However, almost one fifth of patients remain genetically unsolved despite extensive genetic screening of ABCC6, as illustrated in a large French PXE series of 220 cases. We searched for new PXE gene(s) to solve the ABCC6-negative patients.
Mots clés
ABCC6, CYP2U1, ectopic mineralization, hereditary spastic paraplegia type 56, pseudoxanthoma elasticum
Référence
J Intern Med. 2021 05;289(5):709-725
