Article
A Pro253Arg mutation in fibroblast growth factor receptor 2 (Fgfr2) causes skeleton malformation mimicking human Apert syndrome by affecting both chondrogenesis and osteogenesis.
Bone - 1 Apr 2008
Yin Liangjun, Du Xiaolan, Li Cuiling, Xu Xiaoling, Chen Zhi, Su Nan, Zhao Ling, Qi Huabing, Li Fubing, Xue Jing, Yang Jing, Jin Min, Deng Chuxia, Chen Lin
Abstract excerpt
Apert syndrome is one of the most severe craniosynostosis that is mainly caused by either a Ser252Trp(S252W) or Pro253Arg(P253R) mutation in fibroblast growth factor receptor 2 (FGFR2). As an autosomal dominant disorder, Apert syndrome is mainly characterized by skull malformation resulting from premature fusion of craniofacial sutures, as well as syndactyly, etc. A P253R mutation of FGFR2 results in nearly...
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