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
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
Kidney Stones are Prevalent in Individuals with Pseudoxanthoma Elasticum, a Genetic Ectopic Mineralization Disorder.
Ralph D et al.
International Journal of Dermatology and Venereology, 2020
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
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
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
ABCC6 Gene Analysis in 20 Japanese Patients with Angioid Streaks Revealing Four Frequent and Two Novel Variants and Pseudodominant Inheritance.
Katagiri S et al.
Journal of Ophthalmology, 2017
[Pseudodominant inheritance of pseudoxanthoma elasticum].
Charbel Issa P et al.
Der Ophthalmologe : Zeitschrift Der Deutschen Ophthalmologischen Gesellschaft, 2015
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
Angioid streaks in Pseudoxanthoma Elasticum: role of the p.R1268Q mutation in the ABCC6 gene.
Li Q et al.
The Journal of Investigative Dermatology, 2011
Novel mutations of ABCC6 gene in Japanese patients with Angioid streaks.
Sato N et al.
Biochemical and Biophysical Research Communications, 2009
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
[Kidney involvement in pseudoxanthoma elasticum--sonography shows early calcinosis of the kidney parenchyma].
Gresser U et al.
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