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Rare modifier variants alter the severity of cardiovascular disease in pseudoxanthoma elasticum : identification of novel candidate modifier genes and disease pathways through mixture of effects analysis
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VEGFA variants as prognostic markers for the retinopathy in pseudoxanthoma elasticum
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Pathogenic variants in the ABCC6 gene are associated with an increased risk for ischemic stroke
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Generation and validation of a complete knockout model of abcc6a in zebrafish
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- Journal Article
- A1
- open access
GGCX-associated phenotypes : an overview in search of genotype-phenotype correlations
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Association of variants in the VEGFA (Vascular Endothelial Growth Factor) gene with severe retinopathy in pseudoxanthoma elasticum: implications for molecular screening, counseling and management
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Novel phenotypes and genes in pseudoxanthoma elasticum-related soft tissue mineralization: results of an integrative approach
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- Journal Article
- A1
- open access
From variome to phenome : pathogenesis, diagnosis and management of ectopic mineralization disorders
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Efficiency of exome sequencing for the molecular diagnosis and modifier gene identification in pseudoxanthoma elasticum
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Anti-VEGF treatment in Pseudoxanthoma elasticum: preliminary results of a long-term ophthalmological follow-up