Article
Familial Whole Exome Sequencing Study of 30 Families With Early-Onset High Myopia.
Investigative ophthalmology & visual science - 1 May 2023
Yang Entuan, Yu Jifeng, Liu Xue, Chu Huihui, Li Li
Abstract excerpt
Purpose: This study was conducted to investigate potential candidate pathogenic genes in early-onset high myopia (eoHM) in families with eoHM. Methods: Whole-exome sequencing was performed on probands with eoHM to identify potential pathogenic genes. Sanger sequencing was used to verify the identified gene mutations causing eoHM in first-degree relatives of the proband. The identified mutations were screened out...
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