Article
Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1.
Human molecular genetics - 1 Oct 1997
Struk B, Neldner K H, Rao V S, St Jean P, Lindpaintner K
Abstract excerpt
Pseudoxanthoma elasticum (PXE) is a classic inherited disorder of the elastic tissue characterized by progressive calcification of elastic fibers with a pathognomonic histological appearance. The clinical manifestations of PXE typically involve the skin, the eye and the cardiovascular system, res...
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