Digenic heterozygous mutations in EYS/LRP5 in a Chinese family with retinitis pigmentosa

• 作者: Feng-Juan Gao Ge-Zhi Xu Ji-Hong Wu Jun-Yi Chen Sheng-Hai Zhang
• 来源期刊: 国际眼科杂志：英文版
• 学科: 医学
• 年，卷（期）: 2017,（2）
• 页码范围: 325-328
• 页数: 4页
• 分类号: R77

摘要

<正>Dear Editor,I am Dr.Ji-Hong Wu,from the Department of Ophthalmology,Eye&ENT Hospital of Fudan University,China.I write to present a case report of retinitis pigmentosa(RP)caused by novel digenic heterozygous mutations in a Chinese family.RP,the most frequently described inherited retinal dystrophies