Novel mutations identified in Chinese families with autosomal dominant congenital cataracts by targeted next-generation sequencing

Novel mutations identified in Chinese families with autosomal dominant congenital cataracts by targeted next-generation sequencing

Abstract Background Congenital cataract is a clinically and genetically heterogeneous visual impairment. The aim of this study was to identify causative mutations in five unrelated Chinese families diagnosed with congenital cataracts. Methods Detailed family history and clinical data were collected,...

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Bibliographic Details
Main Authors: Shan Li, Jianfei Zhang, Yixuan Cao, Yi You, Xiuli Zhao
Format: Article
Language:English
Published: BMC 2019-12-01
Series:BMC Medical Genetics
Subjects:
Congenital cataract
Next-generation sequencing
Gene mutation
Bioinformatics analysis
Online Access:https://doi.org/10.1186/s12881-019-0933-5

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