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
41257790 (PubMed )
Supplement: 13023_2025_4102_MOESM1_ESM.xlsx › Combined
A Multi-State Structural Genomics Approach Enables Large-Scale, Mechanistic, and Context-Specific Classification of ABCC6 Genetic Variants Implicated in Calcification Diseases.
Wagenknecht JB et al.
Biorxiv : the Preprint Server for Biology, 2025
40667354 (PubMed )
Supplement: media-1.docx
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
39462066 (PubMed )
Supplement: 41598_2024_77014_MOESM2_ESM.xlsx › unsolved_patients
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
36317459 (PubMed )
Supplement: HUMU-43-1872-s002.xlsx › 1A
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
28749477 (PubMed )
Supplement: gim201797x2.xlsx › Sheet1
The ABCC6 Transporter: A New Player in Biomineralization.
Favre G et al.
International Journal of Molecular Sciences, 2017
28891970 (PubMed )
Supplement: ijms-18-01941-s001.xlsx › Sheet1
Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart.
Vanakker OM et al.
Human Mutation, 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
New ABCC6 gene mutations in German pseudoxanthoma elasticum patients.
Hendig D et al.
Journal of Molecular Medicine (berlin, Germany), 2005
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