Bartstra, Jonas W.; Risseeuw, Sara; de Jong, Pim A.; van Os, Bram; Kalsbeek, Lianne; Mol, Chris; Baas, Annette F.; Verschuere, Shana; Vanakker, Olivier; Florijn, Ralph J.; Hendrikse, Jeroen; Mali, Willem; Imhof, Saskia; Ossewaarde-van Norel, Jeannette; van Leeuwen, Redmer; Spiering, Wilko
(Elsevier, 2021-05)
Background and aims: Pseudoxanthoma elasticum (PXE) is caused by variants in the ABCC6 gene. It results in calcification in the skin, peripheral arteries and the eyes, but has considerable phenotypic variability. We ...