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  • Hypophosphatemic rickets due to renal phosphate wasting as a result of mutation(s) in the X-chromosomal PHEX gene, encoding phosphate-regulating neutral endopeptidase. This condition is characterized by normal serum calcium, increased serum alkaline phosphatase, low or inappropriately normal concentrations of 1,25-dihydroxyvitamin D (calcitriol), variable short stature, frontal bossing, dental abscesses, tibial bowing, and inflammation of the insertion sites of ligaments and tendons.
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