Associated Papers
ABCC6 Heterozygosity as Genetic Predisposition to Cerebrovascular Disease Across Ages.
Amico G et al.
Genes, 2026
Pseudoxanthoma Elasticum: The Diagnostic Accuracy of Genetic Testing Compared with Clinical Criteria in a Large Cohort.
Haverkamp M et al.
The Journal of Investigative Dermatology, 2025
Pediatric ABCC6 deficiency: a genotypic and phenotypic analysis.
Bertamino M et al.
Orphanet Journal of Rare Diseases, 2025
Plasma Level of Pyrophosphate Is Low in Pseudoxanthoma Elasticum Owing to Mutations in the ABCC6 Gene, but It Does Not Correlate with ABCC6 Genotype.
Kozák E et al.
Journal of Clinical Medicine, 2023
The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals.
Szeri F et al.
Human Mutation, 2022
Pattern dystrophy-like changes and coquille d'oeuf atrophy in elderly patients affected by pseudoxanthoma elasticum.
Murro V et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2020
Variant discovery in patients with Mendelian vascular anomalies by next-generation sequencing and their use in patient clinical management.
Mattassi R et al.
Journal of Vascular Surgery, 2018
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.
Van Schil K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticum.
Legrand A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Mutations in the ABCC6 gene as a cause of generalized arterial calcification of infancy: genotypic overlap with pseudoxanthoma elasticum.
Li Q et al.
The Journal of Investigative Dermatology, 2014
Can APOE and MTHFR polymorphisms have an influence on the severity of cardiovascular manifestations in Italian Pseudoxanthoma elasticum affected patients?
Boraldi F et al.
Molecular Genetics and Metabolism Reports, 2014
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.
Nitschke Y et al.
American Journal of Human Genetics, 2012
Pseudoxanthoma elasticum: a streamlined, ethnicity-based mutation detection strategy.
Larusso J et al.
Clinical and Translational Science, 2010
Mutational analysis of the ABCC6 gene and the proximal ABCC6 gene promoter in German patients with pseudoxanthoma elasticum (PXE).
Schulz V et al.
Human Mutation, 2006
Novel mutations in the ABCC6 gene of German patients with pseudoxanthoma elasticum.
Schulz V et al.
Human Biology, 2005
New ABCC6 gene mutations in German pseudoxanthoma elasticum patients.
Hendig D et al.
Journal of Molecular Medicine (berlin, Germany), 2005
[From gene to disease; pseudoxanthoma elasticum and the ABCC6 gene].
Bergen AA et al.
Nederlands Tijdschrift Voor Geneeskunde, 2004
Efficient molecular diagnostic strategy for ABCC6 in pseudoxanthoma elasticum.
Hu X et al.
Genetic Testing, 2004
ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum.
Hu X et al.
European Journal of Human Genetics : Ejhg, 2003
A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.
Le Saux O et al.
American Journal of Human Genetics, 2001
Molecular genetics of pseudoxanthoma elasticum.
Ringpfeil F et al.
Experimental Dermatology, 2001
Compound heterozygosity for a recurrent 16.5-kb Alu-mediated deletion mutation and single-base-pair substitutions in the ABCC6 gene results in pseudoxanthoma elasticum.
Ringpfeil F et al.
American Journal of Human Genetics, 2001