Novel Likely Pathogenic Variants Identified by Panel-Based Exome Sequencing in Congenital Cataract Patients

CONCLUSION: Panel-based exome sequencing revealed three likely pathogenic variants in three unrelated Chinese families with congenital cataracts. These data expand the genetic spectrum associated with congenital cataracts.PMID:34840822 | PMC:PMC8612798 | DOI:10.1155/2021/3847409

Source: Journal of Ophthalmology - November 29, 2021 Category: Opthalmology Authors: Doudou Chen Tao Yang Siquan Zhu Source Type: research