Article
ABCC6 and Pseudoxanthoma Elasticum: The Face of a Rare Disease from Genetics to Advocacy.
International journal of molecular sciences - 11 Jul 2017
Moitra Karobi, Garcia Sonia, Jaldin Michelle, Etoundi Clementine, Cooper Donna, Roland Anna, Dixon Patrice, Reyes Sandra, Turan Sevilay, Terry Sharon, Dean Michael
Abstract excerpt
Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder characterized by the mineralization of connective tissues in the body. Primary manifestation of PXE occurs in the tissues of the skin, eyes, and cardiovascular system. PXE is primarily caused by mutations in the ABCC6 gene. The ABCC6 gene encodes the trans-membrane protein ABCC6, which is highly expressed in the kidneys and liver. PXE has high...
Topics
Join the communities discussing this publication.