Article
VEGFA variants as prognostic markers for the retinopathy in pseudoxanthoma elasticum.
Clinical genetics - 1 Jul 2020
De Vilder Eva Y G, Hosen Mohammad J, Martin Ludovic, De Zaeytijd Julie, Leroy Bart P, Ebran Jean-Marc, Coucke Paul J, De Paepe Anne, Vanakker Olivier M
Abstract excerpt
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 growth factor (VEGF) signaling, a molecule encoded by the VEGFA gene. As early detection and treatment is essential to preserve vision,...
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