Kidney Stones Are Prevalent in Individuals with Pseudoxanthoma Elasticum, a Genetic Ectopic Mineralization Disorder

• المؤلفون الرئيسيون: Douglas Ralph (مؤلف), Rina Allawh (مؤلف), Ian F. Terry (مؤلف), Sharon F. Terry (مؤلف), Jouni Uitto (مؤلف), Qiao-Li Li (مؤلف)
• التنسيق: كتاب
• منشور في: Wolters Kluwer Health, 2020-12-01T00:00:00Z.
• الموضوعات: article
• الوصول للمادة أونلاين: Connect to this object online.

Abstract. Objective:. Pseudoxanthoma elasticum (PXE) is a rare genetic disorder caused by loss-of-function mutations in the ABCC6 gene. While PXE is characterized by ectopic mineralization of connective tissues clinically affecting the skin, eyes, and cardiovascular system, kidney stones were report...