Article
Fibrillin-1 gene mutations in a Chinese cohort with congenital ectopia lentis: spectrum and genotype-phenotype analysis.
The British journal of ophthalmology - 1 Dec 2022
Chen Zexu, Chen Tianhui, Zhang Min, Chen Jiahui, Deng Michael, Zheng Jialei, Lan Li-Na, Jiang Yongxiang
Abstract excerpt
AIMS: To identify the mutation spectrum and genotype-phenotype correlations of fibrillin-1 (FBN1) mutations in a Chinese cohort with congenital ectopia lentis (EL). METHODS: Patients clinically suspected of congenital zonulopathy were screened using panel-based next-generation sequencing followed by multiplex ligation-dependent probe amplification. All the probands were subjected to thorough ocular examinations....
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