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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…
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Keywords:
pxe;
vegfa variants;
pseudoxanthoma elasticum;