Shana Verschuere
- ORCID iD
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0000-0001-6366-1939
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- Journal Article
- A1
- open access
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
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Plasma inorganic pyrophosphate levels correlate to specific phenotypes and variant archetypes of ABCC6 in pseudoxanthoma elasticum patients
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- Journal Article
- A1
- open access
Various vascular malformations are prevalent in Finnish pseudoxanthoma elasticum (PXE) patients : a national registry study
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- Journal Article
- A1
- open access
Comprehensive validation of a diagnostic strategy for sequencing genes with one or multiple pseudogenes using pseudoxanthoma elasticum as a model
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Pseudoxanthoma elasticum (PXE) patients and heterozygous carriers have decreased plasma PPi levels which correlate with the cardio(vascular) phenotype
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- Conference Paper
- C3
- open access
Inorganic pyrophosphate plasma levels are decreased in pseudoxanthoma elasticum (PXE) patients and carriers, and correlate with the severity of the vascular phenotype
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- Journal Article
- A1
- open access
Genotype-phenotype correlation in pseudoxanthoma elasticum
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Reassessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum based on Sherloc
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- Conference Paper
- C3
- open access
Pseudoxanthoma elasticum (PXE) patients and heterozygous carriers have decreased plasma PPi levels which correlate with the (cardio)vascular phenotype.
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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