Article
Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticum.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Aug 2017
Legrand Anne, Cornez Laurence, Samkari Wafa, Mazzella Jean-Michael, Venisse Annabelle, Boccio Valérie, Auribault Karine, Keren Boris, Benistan Karelle, Germain Dominique P, Frank Michael, Jeunemaitre Xavier, Albuisson Juliette
Abstract excerpt
PURPOSE: 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. METHODS: A molecular analysis was performed on 458 French PXE probands clinically...
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