Loss-of-Function Mutations of CYP24A1 , the Vitamin D 24-Hydroxylase Gene, Cause Long-standing Hypercalciuric Nephrolithiasis and Nephrocalcinosis
Author:
Affiliation:
1. Department of Nephrology and Hypertension, the Chaim Sheba Medical Center, Tel-Hashomer, Israel
2. Department of Endocrinology, the Sourasky Medical Center and the Sackler School of Medicine, Tel-Aviv University, Tel Aviv, Israel
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Urology
Reference13 articles.
1. Idiopathic hypercalciuria;Liebman;Curr Rheumatol Rep,2006
2. X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations;Scheinman;Kidney Int,1998
3. Genetic causes of hypercalciuric nephrolithiasis;Stechman;Pediatr Nephrol,2009
4. Mutations in CYP24A1 and idiopathic infantile hypercalcemia;Schlingmann;N Engl J Med,2011
5. Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia;Dauber;J Clin Endocrinol Metab,2011
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