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Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare metabolic disorder, characterized by hypophosphatemia and rickets/osteomalacia with increased serum 1,25-dihydroxyvitamin D [1,25-(OH)(2)D] resulting in hypercalciuria.

Intronic Deletions in theSLC34A3Gene Cause Hereditary Hypophosphatemic Rickets with Hypercalciuria