CHARGE syndrome with de novo frameshift mutation in a patient with total retinal detachment and large choroidal coloboma.
作者信息
Yu-Chuan Kang Eugene, Wang Nan-Kai, Wu Wei-Chi
机构信息
Department of Ophthalmology, Linkou Medical Center, Chang Gung Memorial Hospital, Taoyuan, Taiwan.
College of Medicine, Chang Gung University, Taoyuan, Taiwan.
出版信息
Am J Ophthalmol Case Rep. 2022 Feb 2;25:101352. doi: 10.1016/j.ajoc.2022.101352. eCollection 2022 Mar.
Abstract
摘要
Zotero 插件