Fiche publication
Date publication
août 2017
Journal
Genetics in medicine : official journal of the American College of Medical Genetics
Auteurs
Membres identifiés du Cancéropôle Est :
Dr ALBUISSON Juliette
Tous les auteurs :
Legrand A, Cornez L, Samkari W, Mazzella JM, Venisse A, Boccio V, Auribault K, Keren B, Benistan K, Germain DP, Frank M, Jeunemaitre X, Albuisson J
Lien Pubmed
Résumé
Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder caused by variants in the ABCC6 gene. Ectopic mineralization of connective tissues leads to skin, eye, and cardiovascular manifestations with considerable phenotypic variability of unknown cause. We aimed to identify genotype-phenotype correlations in PXE.
Mots clés
Adolescent, Adult, Aged, Aged, 80 and over, Child, Child, Preschool, Cohort Studies, Female, France, epidemiology, Genetic Association Studies, Genotype, Humans, Infant, Infant, Newborn, Male, Middle Aged, Multidrug Resistance-Associated Proteins, genetics, Mutation, Phenotype, Pseudoxanthoma Elasticum, epidemiology, Young Adult
Référence
Genet Med. 2017 08;19(8):909-917
