Pseudoxanthoma elasticum overview
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ayokunle Olubaniyi, M.B,B.S [2]
Overview
Pseudoxanthoma elasticum (PXE) is an inherited disorder of the connective tissue primarily affecting the skin, retina and the cardiovascular system.[1] It is caused by a mutation of the ABCC6 gene on the short arm of chromosome 16 (16p13.1) that encodes an ATP-binding cassette transporter. PXE causes fragmentation and mineralization of elastic fibers in some tissues.
References
- ↑ Chassaing, N.; Martin, L.; Calvas, P.; Le Bert, M.; Hovnanian, A. (2005). "Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations". J Med Genet. 42 (12): 881–92. doi:10.1136/jmg.2004.030171. PMID 15894595. Unknown parameter
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