Seven Novel and Three Known Mutations in FOXL2 in 10 Chinese Families with Blepharophimosis Syndrome

Author:

Lin B.1,Zeng B.2,Zhao J.1,Xu T.3,Wang Y.4,Hu B.5,Li F.6,Zhao Q.7,Liu R.5,Liu J.3,Chen J.M.8,Huang D.1,Wang Y.9

Affiliation:

1. Oculoplasty Department, State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yatsen University, Guangzhou, China

2. Guanghua School of Stomatology, Hospital of Stomatology, Guangdong Provincial Key Laboratory of Stomatology, Sun Yat-sen University, Guangzhou 510055, China

3. State Key Laboratory of Respiratory Disease, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou, China

4. Fetal Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, China

5. Fifth Affiliated Hospital, Sun Yat-sen University-BGI Laboratory, Department of Experimental Medicine, The Fifth Affiliated Hospital, Sun Yat-sen University, Zhuhai, China

6. Department of Prenatal Diagnostic Center, Guangzhou Women and Children`s Medical Centre, Guangzhou Medical University, Guangzhou, China

7. Department of Obstetrics and Gynecology, Jiangmen Central Hospital, Affiliated Jiangmen Hospital of Sun Yat-sen University, Jiangmen, Guangdong 529030, China

8. Institut National de la Sante et de la Recherche Medicale (INSERM), Brest, France

9. Xinhua College, Sun Yat-sen University, Guangzhou, China

Publisher

Bentham Science Publishers Ltd.

Subject

Molecular Biology,Molecular Medicine,General Medicine,Biochemistry

Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Congenital Ptosis;Albert and Jakobiec's Principles and Practice of Ophthalmology;2022

2. Congenital Ptosis;Albert and Jakobiec's Principles and Practice of Ophthalmology;2020

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