Authors: Wang Qi, Shao Zhengbo, Yuan Huiping DOI: 10.3760/cma.j.cn115989-20200301-00127 Published 2023-09-10 Cite as Chin J Exp Ophthalmol, 2023, 41(9): 920-924. Abstract 【Download PDF】 【Read Full Text】 Axenfeld-Rieger syndrome is a rare autosomal dominant hereditary disease characterized by anterior segment dysgenesis, which may be […]
Tag: Genetic variation
VPS13B gene variation and clinical phenotype of Cohen syndrome in a Chinese Han family
Authors: Li Ruimin, Guo Qingge, Li Ya, You Ya, Lei Bo DOI: 10.3760/cma.j.cn115989-20230508-00168 Published 2023-09-10 Cite as Chin J Exp Ophthalmol, 2023, 41(9): 871-878. Abstract 【Download PDF】 【Read Full Text】 Objective To analyze the pathogenicity and clinical characteristics of patients with Cohen syndrome caused […]
Interpretation of standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Author: Sheng Xunlun DOI: 10.3760/cma.j.cn115989-20230419-00142 Published 2023-09-10 Cite as Chin J Exp Ophthalmol, 2023, 41(9): 898-903. Abstract 【Download PDF】 【Read Full Text】 Sequencing technology has evolved rapidly with the advent of high-throughput next-generation sequencing (NGS). By adopting NGS, more and more ophthalmologists […]
Clinical features and genetic variations of Axenfeld-Rieger syndrome
Authors: Wang Qi, Shao Zhengbo, Yuan Huiping DOI: 10.3760/cma.j.cn115989-20200301-00127 Published 2023-09-10 Cite as Chin J Exp Ophthalmol, 2023, 41(9): 920-924. Abstract 【Download PDF】 【Read Full Text】 Axenfeld-Rieger syndrome is a rare autosomal dominant hereditary disease characterized by anterior segment dysgenesis, which may be […]