Mutation spectrum in the ABCC6 gene and genotype–phenotype correlations in a French cohort with pseudoxanthoma elasticum
Sign Up to like & getrecommendations! Published in 2017 at "Genetics in Medicine"
DOI: 10.1038/gim.2016.213
Abstract: 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… read more here.
Keywords: phenotype; genotype phenotype; phenotype correlations; pseudoxanthoma elasticum ... See more keywords
Pseudoxanthoma elasticum and retinitis pigmentosa in a patient with a novel mutation in the ABCC6 gene.
Sign Up to like & getrecommendations! Published in 2023 at "Ophthalmic genetics"
DOI: 10.1080/13816810.2023.2219737
Abstract: BACKGROUND Pseudoxanthoma elasticum (PXE) is an autosomal recessive condition caused by mutations in the ABCC6 gene. Ocular features include angioid streaks, peau d'orange fundus, and drusen. We report a novel ABCC6 mutation causing PXE in… read more here.
Keywords: patient novel; retinitis pigmentosa; patient; pseudoxanthoma elasticum ... See more keywords
Pathogenic variants in the ABCC6 gene are associated with an increased risk for ischemic stroke
Sign Up to like & getrecommendations! Published in 2018 at "Brain Pathology"
DOI: 10.1111/bpa.12620
Abstract: Ischemic stroke causes a high mortality and morbidity worldwide. It results from a complex interplay of incompletely known environmental and genetic risk factors. We investigated the ABCC6 gene as a candidate risk factor for ischemic… read more here.
Keywords: risk; ischemic stroke; abcc6 gene; stroke ... See more keywords