IFT52as a Novel Candidate for Ciliopathies Involving Retinal Degeneration
Investigative Ophthalmology & Visual Science2018Vol. 59(11), pp. 4581–4581
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Xue Chen, Xiaoguang Wang, Chao Jiang, Min Xu, Yang Liu, Qi Rui, Xiaolong Qi, Xiantao Sun, Ping Xie, Qinghuai Liu, Biao Yan, Xunlun Sheng, Chen Zhao
Abstract
This report expands ocular phenotypes of IFT52 mutation-caused ciliopathy to include retinal ciliopathy and demonstrates its deleterious nature in interrupting primary ciliary function. Our study hence highlights the need for screening for IFT52 mutations in LCA patients and ophthalmic reviews of patients carrying IFT52 mutations.
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