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Mutation spectrum and genotype-phenotype correlations in Chinese congenital ectopia lentis patients.

Experimental eye research - 1 Jun 2021

Guo Dongwei, Jin Guangming, Zhou Yijing, Zhang Xinyu, Cao Qianzhong, Lian Zhangkai, Guo Yibin, Zheng Danying

Abstract excerpt

PURPOSE: To identify the spectrum and frequency of mutations in congenital ectopia lentis (CEL) and to investigate the correlations between genotype and clinical phenotype in Chinese CEL patients. METHODS: Ninety-three participants with CEL were enrolled from March 2017 to April 2020. Ocular and systemic examinations were performed for each included patient. Genomic DNA from the included patients was analysed by...

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PMID: 33844962
DOI: 10.1016/j.exer.2021.108570

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