A Novel Mutation of FOXC1 (R127L) in an Axenfeld–Rieger Syndrome Family with Glaucoma and Multiple Congenital Heart Diseases

Rui-Feng DuDepartment of Information Management, Hunan University of Finance and Economics, Changsha, China,

Hao HuangDepartment of Cell Biology, School of Life Sciences, Central South University, Changsha, China,

Liang-Liang FanDepartment of Cell Biology, School of Life Sciences, Central South University, Changsha, China,

Xiang-Ping LiDepartment of Cardiology, the Second Xiangya Hospital of Central South University, Changsha, China, and

Kun XiaDepartment of Cell Biology, School of Life Sciences, Central South University, Changsha, China, ;State Key Laboratory of Medical Genetics, Central South University, Changsha, ChinaCorrespondence[email protected]

Rong XiangDepartment of Cell Biology, School of Life Sciences, Central South University, Changsha, China, ;Department of Cardiology, the Second Xiangya Hospital of Central South University, Changsha, China, and ;State Key Laboratory of Medical Genetics, Central South University, Changsha, ChinaCorrespondence[email protected]

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Acknowledgements

We thank the patients and their families for participating in this study. We thank the Center of Clinical Gene Diagnosis and Therapy of the State Key Laboratory of Medical Genetics of China for technical assistance.

Declaration of interest

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

Funding

This study was supported by the National Natural Science Foundation of China (81370394) and the National Basic Research Program of China (973 Program) (2012CB517900).

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A Novel Mutation of FOXC1 (R127L) in an Axenfeld–Rieger Syndrome Family with Glaucoma and Multiple Congenital Heart Diseases

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A Novel Mutation of FOXC1 (R127L) in an Axenfeld–Rieger Syndrome Family with Glaucoma and Multiple Congenital Heart Diseases

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