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
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
36769695 (PubMed )
Supplement: jcm-12-01047-s001.zip › jcm-2044709-supplementary.xlsx › PXE
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
Characterization of cardiovascular involvement in pseudoxanthoma elasticum families.
Campens L et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2013
23968982 (PubMed )
Supplement: atv201967_supplemental_material2_1.0.pdf
ABCC6 mutations in pseudoxanthoma elasticum: an update including eight novel ones.
Plomp AS et al.
Molecular Vision, 2008
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
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