Pseudoxanthoma elasticum (PXE) is a multisystem genetic disorder characterized by aberrant mineralization of elastic fibers in connective tissue affecting the skin, eyes and the arterial blood vessels. The mutated gene is identified as ABCC6, an ATP-binding cassette transporter. Recently, mutations in the GGCX gene in a family with PXE-like phenotypes have been reported.
Schon S, Schulz V, Prante C, Hendig D, Szliska C, Kuhn J, Kleesiek K, Gotting C
タイトル
Polymorphisms in the xylosyltransferase genes cause higher serum XT-I activity in patients with pseudoxanthoma elasticum (PXE) and are involved in a severe disease course.
