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Hum Mutat. 1999;14(2):115-25.

Clinical spectrum of fibroblast growth factor receptor mutations.

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Departamento Biologia, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.

Erratum in

  • Hum Mutat 2001 May;17(5):431.


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.

[Indexed for MEDLINE]

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