Autosomal recessive hypophosphatemic rickets type 2; a novel mutation in the ENPP1 gene.

Abstract excerpt

BACKGROUND: Hypophosphatemic rickets (HR) is a rare disease caused by several genetic mutations in factors that cause an increase in fibroblast growth factor 23 (FGF23), and renal phosphate transporters. ENPP1 (ectonucleotide pyrophosphatase / phosphodiesterase 1) mutations cause autosomal recessive inheritance hypophosphatemic rickets type 2. CASE: In our study, we present a novel mutation in the ENPP1 gene...

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