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Article

Molecular genetics with clinical characteristics of Leber congenital amaurosis in the Han population of western China.

Ophthalmic genetics - 1 Aug 2021

Zhu Luyao, Ouyang Wangbin, Zhang Minfang, Wang Hao, Li Shiying, Meng Xiaohong, Yin Zheng Qin

Abstract excerpt

Purpose: Leber congenital amaurosis (LCA) is one of the earliest inherited retinal dystrophies (IRD) that leads to blindness. To date, there have been 25 LCA-associated genes reported in China as well as other countries. The current study aimed to present the dominant molecular genetics and clinical features of LCA in the Han population of western China.Methods: Our study comprised 37 patients with strictly...

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PMID: 33970760
DOI: 10.1080/13816810.2021.1904417

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