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  • Hypophosphatemic rickets due to inactivating mutation(s) in the DMP1 gene, encoding dentin matrix acidic phosphoprotein 1, or in the ENPP1 gene, encoding ectonucleotide pyrophosphatase/phosphodiesterase family member 1. The condition is characterized by isolated renal phosphate wasting, hypophosphatemia, and inappropriately normal 1,25-dihydroxyvitamin D (calcitriol) levels.
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