Associated Papers
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
Topography of Slowed Dark Adaptation in Pseudoxanthoma Elasticum: PROPXE Study Report 1.
Pfau K et al.
Investigative Ophthalmology & Visual Science, 2025
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
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
Connecting the Dots of a Rare Connective Tissue Disease: Pseudoxanthoma Elasticum.
Yenior AL et al.
Cureus, 2021
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
The prevalence of pseudoxanthoma elasticum: Revised estimations based on genotyping in a high vascular risk cohort.
Kranenburg G et al.
European Journal of Medical Genetics, 2019
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
Proposal for updating the pseudoxanthoma elasticum classification system and a review of the clinical findings.
Plomp AS et al.
American Journal of Medical Genetics. Part A, 2010
Pseudoxanthoma elasticum: Wide phenotypic variation in homozygotes and no signs in heterozygotes for the c.3775delT mutation in ABCC6.
Plomp AS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2009
ABCC6 mutations in pseudoxanthoma elasticum: an update including eight novel ones.
Plomp AS et al.
Molecular Vision, 2008
Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.
Pfendner EG et al.
Journal of Medical Genetics, 2007
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
Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations.
Chassaing N et al.
Journal of Medical Genetics, 2005
Novel mutations in the ABCC6 gene of German patients with pseudoxanthoma elasticum.
Schulz V et al.
Human Biology, 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
Analysis of the frequent R1141X mutation in the ABCC6 gene in pseudoxanthoma elasticum.
Hu X et al.
Investigative Ophthalmology & Visual Science, 2003
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
Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum.
Le Saux O et al.
Nature Genetics, 2000
[Pseudoxanthoma elasticum--a rare hereditary connective tissue disease].
Lommi J et al.
Duodecim; Laaketieteellinen Aikakauskirja, 1995