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Pseudoxanthoma Elasticum: Progress in Research Toward Treatment: Summary of the 2012 PXE International Research Meeting

✍ Scribed by Uitto, Jouni; Váradi, Andras; Bercovitch, Lionel; Terry, Patrick F; Terry, Sharon F


Book ID
121186582
Publisher
Nature Publishing Group
Year
2013
Tongue
English
Weight
130 KB
Volume
133
Category
Article
ISSN
0022-202X

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Pseudoxanthoma elasticum: Progress in di
✍ Jouni Uitto; Lionel Bercovitch; Sharon F. Terry; Patrick F. Terry 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 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