Abstract
The PHEX gene (phosphate-regulating gene with homologies to endopeptidase on the X chromosome) was initialIy identified as the gene mutated in patients with a prevalent form (1:20,000) of human hereditary rickets called X-Linked Hypophosphatemia (X -linked hypophosphataemia - XLH) and resuIts in a membrane metallopeptidase with high homology to the eprilysin (NEP). The XLH is characterize…