Article
Dynamic morphological changes in the skulls of mice mimicking human Apert syndrome resulting from gain-of-function mutation of FGFR2 (P253R).
Journal of anatomy - 1 Aug 2010
Du Xiaolan, Weng Tujun, Sun Qidi, Su Nan, Chen Zhi, Qi Huabing, Jin Ming, Yin Liangjun, He Qifen, Chen Lin
Abstract excerpt
Apert syndrome is caused mainly by gain-of-function mutations of fibroblast growth factor receptor 2. We have generated a mouse model (Fgfr2(+/P253R)) mimicking human Apert syndrome resulting from fibroblast growth factor receptor 2 Pro253Arg mutation using the knock-in approach. This mouse model in general has the characteristic skull morphology similar to that in humans with Apert syndrome. To characterize the...
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