Novel NaPi-2c mutations that cause mistargeting of NaPi-2c protein and uncoupling of Na-Picotransport cause HHRH

Abstract

hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is an autosomal recessive inherited disorder of mineral and bone metabolism. It is characterized by hypophosphatemia, rickets, and increased serum 1,25-dihydroxyvitamin D concentration, resulting in secondary absortive hypercalciuria and