Article
The Fgfr2(S252W/+) mutation in mice retards mandible formation and reduces bone mass as in human Apert syndrome.
American journal of medical genetics. Part A - 1 May 2013
Zhou Xia, Pu Dongquan, Liu Ri, Li Xiangjie, Wen Xiujie, Zhang Li, Chen Lin, Deng Manjing, Liu Luchuan
Abstract excerpt
Apert syndrome is a common craniosynostosis caused by gain-of-function missense mutations of fibroblast growth factor receptor 2 (FGFR2). Mice with the FGFR2 S252W mutation can elucidate the mechanism by which the human Apert syndrome phenotypes arise. However, many studies have focused on mutant skull and long bone malformation, only few studies have focused on mandible changes. Bone formation and...
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