(OMIM phenotype number #307800 ) See FACT SHEET X-Linked Hypophosphatemia (XLH) X-linked, dominant, hypophosphatemic rickets (XLHR) is a genetic disorder caused by inactivating mutations in the PHEX gene (phosphate-regulating gene with homologies to endopeptidase on the X chromosome). XLHR, first described by[…]
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