At 5 years, laboratory tests to evaluate Ca2+ metabolism revealed hypercalciuria, normocalcemia, hypophosphatemia, hyperphosphaturia, elevated serum alkaline phosphatase (ALP) and parathyroid hormone (PTH) but with normal 25-hydroxy vitamin D3 and calcitriol levels (Fig. 1C and Supplementary Table S1). The gene discussed is PTH; the disease is hypophosphatemia.