FGFR3 and thanatophoric dysplasia: FGFR3 mutations are associated with thanatophoric dysplasia (TD), an autosomal dominant disorder, which was the initial diagnostic hypothesis (DH) for the three samples in which we detected the mutation NM_000142:c.742C > T:p.R248C, the most common mutation associated with TD type I (Tavormina et al., 1995; Wilcox et al., 1998).