Articles with "vegfa variants" as a keyword



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VEGFA variants as prognostic markers for the retinopathy in pseudoxanthoma elasticum

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Published in 2020 at "Clinical Genetics"

DOI: 10.1111/cge.13751

Abstract: Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive ectopic mineralization disorder, characterized by skin, eye and cardiovascular symptoms. The most devastating ocular complication is choroidal neovascularization, which is thought to be mediated by vascular endothelial… read more here.

Keywords: pxe; vegfa variants; pseudoxanthoma elasticum;