Fibroblast-growth-factor receptor mutations in human skeletal disorders

Trends Genet. 1995 Aug;11(8):308-13. doi: 10.1016/s0168-9525(00)89088-5.


Fibroblast-growth-factor receptors (FGFRs), members of the tyrosine-kinase receptor family, play a crucial role in signal transduction and development. Recently, unique mutations in three human FGFR-encoding genes (FGFR1-3) have been identified as the cause of a variety of skeletal disorders. Comparison of these specific mutations with the resulting phenotypes is now providing new insight into the role of these receptors in normal and abnormal bone development.

Publication types

  • Review

MeSH terms

  • Animals
  • Bone Diseases / genetics*
  • Humans
  • Mutation*
  • Receptors, Fibroblast Growth Factor / genetics*


  • Receptors, Fibroblast Growth Factor