This hypocalcaemia was associated with significant increases in plasma PTH concentrations (Sox3+/Y = 150.1 ± 46.3 pmol/L vs 11.8 ± 7.6 pmol/L, P < 0.001; and Sox3+/+ = 157.8 ± 47.6 pmol/l vs 15.3 ± 11.8 pmol/L, P < 0.001, n = 15–24) (Fig. 3C) and alkaline phosphatase (ALP) activities (Sox3+/Y = 668.1 ± 161.9 U/L vs 258.7 ± 47.2 U/L, P < 0.001; Sox3+/+ = 820.8 ± 234.4 U/L vs 296.5 ± 58.4 U/L, P < 0.001, n = 16–25) (Fig. 3D). The gene discussed is SOX3; the disease is Hypocalcemia.