Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 1999;14(2):115-25.
doi: 10.1002/(SICI)1098-1004(1999)14:2<115::AID-HUMU3>3.0.CO;2-2.

Clinical spectrum of fibroblast growth factor receptor mutations

M R Passos-Bueno  1 , W R Wilcox, E W Jabs, A L Sertié, L G Alonso, H Kitoh
Affiliations

Clinical spectrum of fibroblast growth factor receptor mutations

M R Passos-Bueno et al. Hum Mutat. 1999.

Erratum in

  • Hum Mutat 2001 May;17(5):431

Abstract

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.

PubMed Disclaimer

Publication types

MeSH terms

Substances

LinkOut - more resources