WT1 and oculotrichodysplasia: We identified seven families from a cohort of 78 unrelated 46,XX TDSD/OTD individuals (8.97%) carrying five different novel variants in WT1 (p.Arg495Gly [Patient 1]; p.Pro481Leufs*15 [Patient 2]; p.Arg495Gln [Patients 3, 4, 5a, 5b]; Lys491Glu [Patient 6]; p.Ser478Thrfs*17 [Patient 7]; Table 1).