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Clinical spectrum of fibroblast growth factor receptor mutations
Author(s) -
PassosBueno M.R.,
Wilcox W.R.,
Jabs E.W.,
Sertié A.L.,
Alonso L.G.,
Kitoh H.
Publication year - 1999
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1999)14:2<115::aid-humu3>3.0.co;2-2
Subject(s) - biology , fibroblast growth factor receptor 1 , genetics , phenotype , fibroblast growth factor receptor , fibroblast growth factor , gene , craniosynostosis , fibroblast growth factor receptor 2 , mutation , dwarfism , fibroblast growth factor receptor 3 , genotype , receptor , cancer research
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. Hum Mutat 14:115–125, 1999. © 1999 Wiley‐Liss, Inc.