The conclution is that the achondroplasia patients have point mutation in the transmembrane domain of FGFR3 and the codon 380 is the hotspot of the mutation. ?

• 软骨发育不全患者出现FGFR3基因跨膜区的点突变，380位密码子是软骨发育不全患者突变的热点。