MAMLD1 and disorder of sexual differentiation: Three MAMLD1 sequence variations were considered SNPs, but had been previously described in both controls and 46,XY DSD individuals (rs41313406: c.1075C>T, P359S; rs61740566: c.1514T>C, V505A and rs2073043: c.1985A>G, N662S) [3–7, 14]; one was previously detected in 46,XY patients only (rs62641609: c.1041C>A, H347Q) [6], and 7 were novel (c.605C>T, p.T202M; c.626delT; p.L210X; c.631G>A, p.D211N; c.1503_1504dupCAGCAG, p.Q501Q502; c.1508C>A, p.A503E; c.2170C>G, p.L724V and c.2190G>A, p.S730S).