EVC and disorder of sexual differentiation: Moreover, 16 identified genes had been previously described in other types of DSD (CUL4B, EMX2, FRAS1, FREM2, HSD3B2, NOTCH2, and NRP1) and/or were reported in different syndromes (CYP1A1, EVC, FRAS1, HOXA13, PTPN11, RECQL4, RET, RIPK4, and ZBTB16).