Article
Expanding the phenotypic spectrum of mutations in LRP2: a novel candidate gene of non-syndromic familial comitant strabismus.
Journal of translational medicine - 6 Dec 2021
Wang Yue, Chen Xuejuan, Jiang Tao, Gu Yayun, Zhang Xiaohan, Yuan Wenwen, Zhao Andi, Li Rui, Wang Zijin, Hu Zhibin, Liu Hu
Abstract excerpt
BACKGROUND: Comitant strabismus (CS) is a heterogeneous disorder that is a major contributing factor to unilateral childhood-onset visual impairment. Studies have confirmed that genetic factors play an important role in the development of CS. The aim of this study was to identify the genetic cause of non-syndromic familial CS. METHODS: Fourteen unrelated CS families were recruited for the study. Twelve affected...
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