Authors: Guo Haoyi, Jiang Yongqiang, Li Xiaohua, Li Jie, Guo Sibei, Song Zongming DOI: 10.3760/cma.j.cn115989-20240519-00131 Published: 2025 -07 -10 Citation Guo Haoyi, Jiang Yongqiang, Li Xiaohua, et al. Genetic characteristics of a family with Axenfeld-Rieger syndrome caused by 4q25 microdeletion[J]. Chin J Exp Ophthalmol, 2025, 43(7):631-636. DOI: 10.3760/cma.j.cn115989-20240519-00131. ABSTRACT [Download […]
Tag: PITX2 gene
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 […]