Clinical spectrum of fibroblast growth factor receptor mutations

M. R. Passos-Bueno, W. R. Wilcox, E. W. Jabs, A. L. Sertié, L. G. Alonso, H. Kitoh

Research output: Contribution to journalArticlepeer-review

243 Scopus citations


During the last few years, it has been demonstrated that some syndromic craniosynostosis and short-limb dwarfism syndromes, a heterogeneous group comprising of 11 distinct clinical entities, are caused by mutations in one of three fibroblast growth factor receptor genes (FGFR1, FGFR2, and FGFR3). The present review list all mutations described to date in these three genes and the phenotypes associated with them. In addition, the tentative phenotype-genotype correlation is discussed, including the most suggested causative mechanisms for these conditions.

Original languageEnglish (US)
Pages (from-to)115-125
Number of pages11
JournalHuman Mutation
Issue number2
StatePublished - 1999


  • Achondroplasia
  • Antley-Bixtley syndrome
  • Apert syndrome
  • Beare-Stevenson syndrome
  • Craniosynostosis
  • Crouzon syndrome
  • FGFR1
  • FGFR2
  • FGFR3
  • Hypochondroplasia
  • Jackson- Weiss syndrome
  • Pfeiffer syndrome
  • Platyspon dylic lethal skeletal dysplasia
  • Saethre-Chotzen syndrome
  • Thanatophoric dysplasia

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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