X-Linked Hypophosphatemia Caused by a New Partial Insertion of LINE-1 in the PHEX Gene
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X-linked hypophosphatemia (XLH), primarily caused by mutations of the PHEX gene, is the most common cause of genetic rickets. Pediatric cases of XLH typically present with elevated levels of serum fibroblast growth factor 23 (FGF23), hypophosphatemia, rickets,... ...
