Article
The C342R mutation in FGFR2 causes Crouzon syndrome with elbow deformity.
The Journal of craniofacial surgery - 1 Mar 2015
Ke Ronghu, Yang Xianxian, Tianyi Cai, Ge Min, Lei Jiaqi, Mu Xiongzheng
Abstract excerpt
Crouzon syndrome is an autosomal dominant craniosynostosis syndrome caused by mutation in the fibroblast growth factor receptor 2 (FGFR-2). Numerous findings from animal studies imply a critical role for FGFRs in the regulation of skeletal development. Here, we report 2 unrelated patients with Crouzon syndrome accompanied by elbow deformity. Subsequently, we analyzed the sequence of the FGFR2 gene and found that...
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