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Article

Genotypic spectrum and phenotype correlations of EYS-associated disease in a Chinese cohort.

Eye (London, England) - 1 Nov 2022

Gao Feng-Juan, Wang Dan-Dan, Hu Fang-Yuan, Xu Ping, Chang Qing, Li Jian-Kang, Liu Wei, Zhang Sheng-Hai, Xu Ge-Zhi, Wu Ji-Hong

Abstract excerpt

BACKGROUND: To date, certain efforts have been made to investigate the clinical and genetic characteristics of patients with EYS mutations. However, data for Chinese patients are limited. OBJECTIVES: To perform a detailed phenotyping and genetic characterization of 55 Chinese patients with EYS-RD, and to identify risk factors for these clinical data. METHODS: A total of 55 patients with EYS-RD were recruited....

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PMID: 34689181
DOI: 10.1038/s41433-021-01794-6
PMCID: PMC9581949

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