Emmanuel Letavernier et al.
Journal of the American Society of Nephrology : JASN, 29(9), 2337-2347 (2018-07-12)
Pseudoxanthoma elasticum (PXE) is a genetic disease caused by mutations in the ABCC6 gene that result in low pyrophosphate levels and subsequent progressive soft tissue calcifications. PXE mainly affects the skin, retina, and arteries. However, many patients with PXE experience