Concordant X-linked hypophosphatemic rickets in monozygotic twins: diagnostic challenges and a novel genetic insight
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Summary: X-linked hypophosphatemic (XLH) is the most common inherited form of rickets, caused by inactivating mutations in the PHEX gene. Resultant overproduction of fibroblast growth factor 23 (FGF23) leads to renal phosphate wa... ...
