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: Axenfeld-Rieger syndrome
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 […]
Screening of pathogenic mutation in a family with Axenfeld-Rieger syndrome by whole exome sequencing
·Clinical research· Pathogenic mutation screening in a family with Axenfeld-Rieger Syndrome by whole exome sequencing Wang Qi, Liu Xinna, Shao Zhengbo, Yuan Huiping Department of Ophthalmology, the Second Affiliated Hospital of Harbin Medical Universiiy, The Key Laboratory of Myocardial Ischemia, Harbin Medical University, Ministry Educatton, Future Medical Laboratory, the Second Affiilated Hospital of Harbin Medical […]