Usher syndrome

Inframe deletion of human ESPN is associated with deafness, vestibulopathy and vision impairment
Zubair M Ahmed, Thomas J Jaworek, Gowri N Sarangdhar, Lili Zheng, Khitab Gul, Shaheen N Khan, Thomas B Friedman, Robert A Sisk, James R Bartles, Sheikh Riazuddin, Saima Riazuddin

Journal of Medical Genetics Jul 2018, 55 (7) 479-488; DOI: 10.1136/jmedgenet-2017-105221
CEP78 is mutated in a distinct type of Usher syndrome
Qing Fu, Mingchu Xu, Xue Chen, Xunlun Sheng, Zhisheng Yuan, Yani Liu, Huajin Li, Zixi Sun, Huiping Li, Lizhu Yang, Keqing Wang, Fangxia Zhang, Yumei Li, Chen Zhao, Ruifang Sui, Rui Chen

Journal of Medical Genetics Mar 2017, 54 (3) 190-195; DOI: 10.1136/jmedgenet-2016-104166
A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome
Samer Khateb, Lina Zelinger, Liliana Mizrahi-Meissonnier, Carmen Ayuso, Robert K Koenekoop, Uri Laxer, Menachem Gross, Eyal Banin, Dror Sharon

Journal of Medical Genetics Jul 2014, 51 (7) 460-469; DOI: 10.1136/jmedgenet-2014-102287

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