Article
Pseudoxanthoma elasticum: a clinical, histopathological, and molecular update.
Survey of ophthalmology - 1 Jan 2000
Hu Xiaofeng, Plomp Astrid S, van Soest Simone, Wijnholds Jan, de Jong Paulus T V M, Bergen Arthur A B
Abstract excerpt
Pseudoxanthoma elasticum is an autosomally inherited disorder that is associated with the accumulation of mineralized and fragmented elastic fibers in the skin, Bruch's membrane in the retina, and vessel walls. The ophthalmic and dermatologic expression of pseudoxanthoma elasticum and its vascular complications are heterogeneous, with considerable variation in phenotype, progression, and mode of inheritance....
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