Article
C278F mutation in FGFR2 gene causes two different types of syndromic craniosynostosis in two Chinese patients.
Molecular medicine reports - 1 Oct 2017
Lin Ying, Gao Hongbin, Ai Siming, Eswarakumar Jacob V P, Chen Chuan, Zhu Yi, Li Tao, Liu Bingqian, Liu Xialin, Luo Lixia, Jiang Hongye, Li Yonghao, Liang Xiaoling, Jin Chenjin, Huang Xinhua, Lu Lin
Abstract excerpt
The current study was performed with aim to investigate the fibroblast growth factor receptor 2 (FGFR2) gene in two Chinese families with two different forms of syndromic craniosynostosis, and to characterize their associated clinical features. Two families underwent complete ophthalmic examinations, and two patients from each family were diagnosed with craniosynostosis. Genomic DNA was extracted from leukocytes...
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