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Current Eye Research Volume 46, 2021 - Issue 6
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Retina

Variants in RCBTB1 are Associated with Autosomal Recessive Retinitis Pigmentosa but Not Autosomal Dominant FEVR

Junxing YangState Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, ChinaView further author information
,
Xueshan XiaoState Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, ChinaView further author information
,
Wenmin SunState Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, ChinaView further author information
,
Shiqiang LiState Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, ChinaView further author information
,
Xiaoyun JiaState Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, ChinaView further author information
&
Qingjiong ZhangState Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, ChinaCorrespondence[email protected] [email protected]
View further author information
Pages 839-844 | Received 14 Apr 2020, Accepted 19 Oct 2020, Published online: 18 Nov 2020

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Andrew J. Catomeris, Brian G. Ballios, Riccardo Sangermano, Naomi E. Wagner, Jason I. Comander, Eric A. Pierce, Emily M. Place, Kinga M. Bujakowska & Rachel M. Huckfeldt. (2022) Novel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy. Ophthalmic Genetics 43:3, pages 332-339.
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Junxing Yang, Wenmin Sun & Qingjiong Zhang. (2021) Start and End with Genetics: RCBTB1 and Beyond. Current Eye Research 46:12, pages 1932-1933.
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Articles from other publishers (4)

Zhiqin Huang, Dan Zhang, Shang-Chih Chen, Di Huang, David Mackey, Fred K. Chen & Samuel McLenachan. (2023) Mitochondrial Dysfunction and Impaired Antioxidant Responses in Retinal Pigment Epithelial Cells Derived from a Patient with RCBTB1-Associated Retinopathy. Cells 12:10, pages 1358.
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Ning Qu, Wei Li, Dong‐Ming Han, Jia‐Yu Gao, Zheng‐Tao Yang, Li Jiang, Tian‐Bin Liu, Yan‐Xian Chen, Xiao‐Sen Jiang, Liang Zhou, Ji‐Hong Wu & Xin Huang. (2022) Mutation spectrum in a cohort with familial exudative vitreoretinopathy. Molecular Genetics & Genomic Medicine 10:9.
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Zhiqin Huang, Dan Zhang, Shang‐Chih Chen, Luke Jennings, Livia S. Carvalho, Sue Fletcher, Fred K. Chen & Samuel McLenachan. (2021) Gene replacement therapy restores RCBTB1 expression and cilium length in patient‐derived retinal pigment epithelium . Journal of Cellular and Molecular Medicine 25:21, pages 10020-10027.
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Wenmin Sun, Xueshan Xiao, Shiqiang Li, Xiaoyun Jia, Panfeng Wang & Qingjiong Zhang. (2021) Pathogenic variants and associated phenotypic spectrum of TSPAN12 based on data from a large cohort. Graefe's Archive for Clinical and Experimental Ophthalmology 259:10, pages 2929-2939.
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