Pseudoxanthoma elasticum overview: Difference between revisions
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==Overview== | ==Overview== | ||
Pseudoxanthoma elasticum (PXE) is | Pseudoxanthoma elasticum (PXE) is an inherited disorder of the connective tissue primarily affecting the [[skin]], [[retina]] and the [[cardiovascular system]].<ref name="Chassaing-2005">{{Cite journal | last1 = Chassaing | first1 = N. | last2 = Martin | first2 = L. | last3 = Calvas | first3 = P. | last4 = Le Bert | first4 = M. | last5 = Hovnanian | first5 = A. | title = Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations. | journal = J Med Genet | volume = 42 | issue = 12 | pages = 881-92 | month = Dec | year = 2005 | doi = 10.1136/jmg.2004.030171 | PMID = 15894595 }}</ref> | ||
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== | ==References== | ||
Revision as of 23:04, 18 August 2013
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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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