Article
FGFR2 mutations and associated clinical observations in two Chinese patients with Crouzon syndrome.
Molecular medicine reports - 1 Nov 2017
Lin Ying, Gao Hongbin, Ai Siming, Eswarakumar Jacob V P, Zhu Yi, Chen Chuan, Li Tao, Liu Bingqian, Jiang Hongye, Liu Yuhua, Li Yonghao, Wu Qingxiu, Li Haichun, Liang Xiaoling, Jin Chenjin, Huang Xinhua, Lu Lin
Abstract excerpt
The aim of the present study was to identify mutations in the fibroblast growth factor receptor 2 (FGFR2) gene in patients with Crouzon syndrome and characterize the associated clinical features. A total of two Chinese patients diagnosed with Crouzon syndrome underwent complete examinations, including best‑corrected visual acuity, slit‑lamp, examination, fundus examination, optical coherence tomography and...
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