【摘 要】
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Purpose:Crouzon syndrome,a dominantly inherited disorder and the most common craniosynostosis syndrome,is caused by mutations in the fibroblast growth factor receptor 2 (FGFR2) gene,and characterized
【出 处】
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第六届全国眼科学研究生学术论坛暨眼科细胞及再生生物学世界大会
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Purpose:Crouzon syndrome,a dominantly inherited disorder and the most common craniosynostosis syndrome,is caused by mutations in the fibroblast growth factor receptor 2 (FGFR2) gene,and characterized by craniosynostosis,shallow orbits,ocular proptosis,midface hypoplasia,and a curved,beaklike nose.The purposed of this study was to investigate the fibroblast growth factor receptor 2 (FGFR 2) gene in one Chinese family with Crouzon syndrome and to characterize the related clinical features.
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