Article
Severe meningeal calcification in a Crouzon patient carrying a mutant C342W FGFR2.
The Journal of craniofacial surgery - 1 Mar 2015
Ke Ronghu, Lei Jiaqi, Ge Min, Cai Tianyi, Yang Junyi, Wu Yingzhi, Mu Xiongzheng
Abstract excerpt
Crouzon is an autosomal dominant craniosynostosis syndrome caused by mutation in the fibroblast growth factor receptor (FGFR)-2 gene. Recent findings from animal studies imply a critical role for FGFs in the regulation of mineralization. Here, we presented a 5-year-old girl with severe meningeal calcification. Subsequently, we analyzed FGFR2 mutation and identified a mutation of Cys342Tyr. The findings suggest...
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