Increased p21 expression in chondrocytes of achondroplasic children independently from the presence of the G380R FGFR3 mutation

Background Achondroplasia (ACH) represents the major cause of dwarfism and is due to mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. The cellular mechanisms involved in the reduced growth have been mainly described for in vitro or in vivo models, but few data have been obtained for humans.