Late-onset Pseudoxanthoma Elasticum Associated with a Hypomorphic ABCC6 Variant
Author:
Funder
National Institute for Health Research
Publisher
Elsevier BV
Subject
Ophthalmology
Reference20 articles.
1. Pseudoxanthoma elasticum;Germain;Orphanet J Rare Dis,2017
2. Proposal for updating the pseudoxanthoma elasticum classification system and a review of the clinical findings;Plomp;Am J Med Genet A,2010
3. Pseudoxanthoma elasticum as a paradigm of heritable ectopic mineralization disorders: pathomechanisms and treatment development;Li;Am J Pathol,2019
4. Mutation detection in the ABCC6 gene and genotype–phenotype analysis in a large international case series affected by pseudoxanthoma elasticum;Pfendner;J Med Genet,2007
5. Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticum;Legrand;Genet Med,2017
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1. Detailed Phenotype Supports Pathogenicity of Hypomorphic Variant in ABCC6-Associated Pattern Dystrophy;Case Reports in Ophthalmology;2024-06-12
2. Hypomorphic variants in inherited retinal and ocular diseases: A review of the literature with clinical cases;Survey of Ophthalmology;2023-11
3. Subclinical Angioid Streaks with Pseudodrusen: A New Phenotype of Age-Related Macular Degeneration;Ophthalmology and Therapy;2023-08-05
4. 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;Human Mutation;2022-11-15
5. Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory;Genome Medicine;2022-07-22
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