Article
[From gene to disease; pseudoxanthoma elasticum and the ABCC6 gene].
Nederlands tijdschrift voor geneeskunde - 7 Aug 2004
Bergen A A B, Plomp A S, Gorgels T G M F, de Jong P T V M
Abstract excerpt
Pseudoxanthoma elasticum (PXE) is a hereditary disease of the connective tissue characterized by progressive dystrophic mineralization of elastic fibres. PXE patients have skin lesions, may experience loss of visual acuity and cardiovascular complications. The inheritance pattern of PXE is almost always autosomal recessive. In less than 2% of the families, PXE may be inherited in an autosomal dominant fashion....
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