CTNND1 variants cause familial exudative vitreoretinopathy through the Wnt/cadherin axis

Familial exudative vitreoretinopathy (FEVR) is a hereditary disorder that can cause vision loss. CTNND1 encodes a cellular adhesion protein p120-catenin (p120), which is essential for vascularization with unclear function in postnatal physiological angiogenesis. Here, we applied whole-exome sequenci...

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Autors principals:	Mu Yang, Shujin Li, Li Huang, Rulian Zhao, Erkuan Dai, Xiaoyan Jiang, Yunqi He, Jinglin Lu, Li Peng, Wenjing Liu, Zhaotian Zhang, Dan Jiang, Yi Zhang, Zhilin Jiang, Yeming Yang, Peiquan Zhao, Xianjun Zhu, Xiaoyan Ding, Zhenglin Yang
Format:	Artigo
Idioma:	Inglês
Publicat:	American Society for Clinical investigation 2022-07-01
Col·lecció:	JCI Insight
Matèries:	Genetics Ophthalmology
Accés en línia:	https://doi.org/10.1172/jci.insight.158428
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