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Clinical spectrum of fibroblast growth factor receptor mutations

✍ Scribed by M.R. Passos-Bueno; W.R. Wilcox; E.W. Jabs; A.L. Sertié; L.G. Alonso; H. Kitoh

Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
287 KB
Volume
14
Category
Article
ISSN
1059-7794

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✦ Synopsis

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.

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