Article
Pseudoxanthoma elasticum - Genetics, pathophysiology, and clinical presentation.
Progress in retinal and eye research - 1 Sept 2024
Pfau Kristina, Lengyel Imre, Ossewaarde-van Norel Jeannette, van Leeuwen Redmer, Risseeuw Sara, Leftheriotis Georges, Scholl Hendrik P N, Feltgen Nicolas, Holz Frank G, Pfau Maximilian
Abstract excerpt
Pseudoxanthoma elasticum (PXE) is an autosomal-recessively inherited multisystem disease. Mutations in the ABCC6-gene are causative, coding for a transmembrane transporter mainly expressed in hepatocytes, which promotes the efflux of adenosine triphosphate (ATP). This results in low levels of plasma inorganic pyrophosphate (PPi), a critical anti-mineralization factor. The clinical phenotype of PXE is...
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