Pseudoxanthoma elasticum: Progress in di
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Jouni Uitto; Lionel Bercovitch; Sharon F. Terry; Patrick F. Terry
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Article
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2011
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John Wiley and Sons
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English
⚖ 241 KB
👁 2 views
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