Article
Novel fibroblast growth factor receptor 3 (FGFR3) mutations in bladder cancer previously identified in non-lethal skeletal disorders.
European journal of human genetics : EJHG - 1 Dec 2002
van Rhijn Bas W G, van Tilborg Angela A G, Lurkin Irene, Bonaventure Jacky, de Vries Annie, Thiery Jean-Paul, van der Kwast Theodorus H, Zwarthoff Ellen C, Radvanyi Francois
Abstract excerpt
Activating mutations in the fibroblast growth factor receptor 3 (FGFR3) gene are responsible for several autosomal dominant craniosynostosis syndromes and chondrodysplasias i.e. hypochondroplasia, achondroplasia, SADDAN and thanatophoric dysplasia--a neonatal lethal dwarfism syndrome. Recently, activating FGFR3 mutations have also been found to be present in cancer, i.e. at high frequency in carcinoma of the...
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