Article
Missense mutation in the PAX6 gene can cause a complex mild variable phenotype predominated by concomitant strabismus.
Ophthalmic genetics - 1 Feb 2022
Shen Tao, Qiu Xuan, Lin Xiaoming, Lin Jing, Li Xiuling, Chen Qiwen, Pan Liuqing, Wang Zhonghao, Shen Huangxuan, Zhang Qingjiong, Yan Jianhua
Abstract excerpt
PURPOSE: We aimed to reveal the underlying genetic defect in a multigenerational Chinese family with autosomal dominant concomitant strabismus complicated by multiple ocular developmental abnormalities. METHODS: Comprehensive ophthalmic examinations were performed in 14 patients and 24 healthy family members. Whole exome sequencing was performed, and Sanger sequencing was used to confirm the probable mutation in...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.