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Reassessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum based on Sherloc
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- Journal Article
- A1
- open access
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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- Journal Article
- A1
- open access
Nonlinear optical microscopy is a novel tool for the analysis of cutaneous alterations in pseudoxanthoma elasticum
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The pathogenic p.(R391G) ABCC6 displays incomplete penetrance implying the necessity of an interacting partner for the development of pseudoxanthoma elasticum
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- Journal Article
- A1
- open access
Internal carotid artery hypoplasia : a new clinical feature in pseudoxanthoma elasticum
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- Journal Article
- A1
- open access
Endogenous calcification inhibitors in the prevention of vascular calcification : a consensus statement from the COST Action EuroSoftCalcNet
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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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Whole exome sequencing as a novel tool for the detection of modifier genes in pseudoxanthoma elasticum
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Whole exome sequencing as a novel tool for the detection of modifier genes in Pseudoxanthoma elasticum