Likewise, activating mutations in FGFR3 are found in the transmembrane and the tyrosine kinase domains e.g. in achondroplasia, thanatophoric dysplasia type I (TDI) and type II (TDII) [12], [33], [34], [35]. The gene discussed is FGFR3; the disease is thanatophoric dysplasia type 1.