Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticum.

Anne LegrandLaurence CornezWafa SamkariJean-Michael MazzellaAnnabelle VenisseValérie BoccioKarine Auribault Boris KerenKarelle BenistanDominique Paul GermainMichael FrankXavier JeunemaitreJuliette Albuisson

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2017)

We propose an updated PS including renal and neurological features and adaptation of follow-up according to the genetic and ethnic status of PXE-affected patients.Genet Med advance online publication 19 January 2017.

Keyphrases

end stage renal disease
genome wide
chronic kidney disease
copy number
peritoneal dialysis
social media
healthcare
gene expression
patient reported outcomes
health information
subarachnoid hemorrhage
patient reported
cerebral ischemia