Skeletal disorders associated with fibroblast growth factor receptor mutations

Curr Opin Genet Dev. 1997 Jun;7(3):378-85. doi: 10.1016/s0959-437x(97)80152-9.


Mutations in three fibroblast growth factor receptor loci underlie several autosomal dominant skeletal disorders; these include dwarfism and various craniosynostosis syndromes affecting limb and craniofacial bone patterning. A functional analysis of several of these mutations has demonstrated that a constitutive activation of the receptor kinase is a common theme.

Publication types

  • Review

MeSH terms

  • Bone Diseases, Developmental / genetics*
  • Craniosynostoses / genetics*
  • Humans
  • Mutation / genetics*
  • Receptors, Fibroblast Growth Factor / genetics*
  • Syndrome


  • Receptors, Fibroblast Growth Factor