DUOXA2 and thanatophoric dysplasia: Specifically, a nonsense (p.Y246X) variant in DUOXA2 had an extremely high rate, with a frequency of up to 68 in 377 cases (18.04%), including 20 GIS cases and 48 TD cases (comprising 13 hypoplasia cases, 17 ectopia cases and 18 athyreosis cases).