Bone Abstracts

The fibroblast growth factor receptor 3 (FGFR3) activation leads to dwarfism with a spectrum of severity, hypochondroplasia (HCH), severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN), and thanatophoric dysplasia (TD). Interestingly, FGFR3 mutations localized at the same position in the tyrosine kinase domain are responsible for HCH (p. Lys650Asn), SADDAN (p. Lys650Met) and TD (p. Lys650Glu).The mechanisms of FGFR3 activation ...