Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation

Autor: Neil J. McLellan, David M. Ornitz, Xijie Yu, Nick Shaw, Kenneth E. White, Joanna Fields, Wayne E. Evans, Siobhan I. Davis, Kai Yu, Carole McKeown, David R. FitzPatrick, Tonya Fishburn, Michael J. Econs, Shoji Ichikawa, Jose M. Cabral

Publikováno v: White, K E, Cabral, J M, Davis, S I, Fishburn, T, Evans, W E, Ichikawa, S, Fields, J, Yu, X, Shaw, N J, McLellan, N J, McKeown, C, Fitzpatrick, D, Yu, K, Ornitz, D M & Econs, M J 2005, ' Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation ', American Journal of Human Genetics, vol. 76, no. 2, pp. 361-7 . https://doi.org/10.1086/427956

Activating mutations in the genes for fibroblast growth factor receptors 1-3 (FGFR1-3) are responsible for a diverse group of skeletal disorders. In general, mutations in FGFR1 and FGFR2 cause the majority of syndromes involving craniosynostosis, whe

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https://hdl.handle.net/20.500.11820/458e9a00-9223-454f-b44d-7a747751490c