Tag: Autosomal dominant optic atrophy

Clinical phenotype and genotype analysis of a family with autosomal dominant optic atrophy caused by a novel nonsense variant in OPA1

2024，No. 10, Clinical Science, Current Issue, Highlights

Authors: Wang Lihong, Wang Zhili, Chen Xiao, Wei Jia, Chen Kang, Cui Longjiang DOI: 10.3760/cma.j.cn115989-20231227-00224 Published： 2024 -10 -10 · Citation: Wang Lihong, Wang Zhili, Chen Xiao,et al. Clinical phenotype and genotype analysis of a family with autosomal dominant optic atrophy caused by a novel nonsense variant in OPA1[J]. Chin J Exp Ophthalmol, 2024, 42(10):932-937. DOI: 10.3760/cma.j.cn115989-20231227-00224. ABSTRACT      […]