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Pseudoxanthoma elasticum: diagnostic features, classification and treatment options

✍ Scribed by Uitto, Jouni (author);Jiang, Qiujie (author);Váradi, András (author);Bercovitch, Lionel G. (author);Terry, Sharon F. (author)

Book ID
124101263
Publisher
Informa Healthcare
Year
2014
Tongue
English
Weight
397 KB
Volume
2
Category
Article
ISSN
2167-8707

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Pseudoxanthoma elasticum (PXE), a prototypic heritable disorder with ectopic mineralization, manifests with characteristic skin findings, ocular involvement, and cardiovascular problems. The classic forms of PXE are due to loss-of-function mutations in the ABCC6 gene, which encodes ABCC6, a putative