The mutation spectrum in familial versus sporadic congenital cataract based on next-generation sequencing

The mutation spectrum in familial versus sporadic congenital cataract based on next-generation sequencing

Abstract Background Congenital cataract (CC) is a significant cause of lifelong visual loss, and its genetic diagnosis is challenging due to marked genetic heterogeneity. The purpose of this article is to report the genetic findings in sporadic and familial CC patients. Methods Patients (n = 53) who...

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Bibliographic Details
Main Authors: Fan Fan, Yi Luo, Jihong Wu, Chao Gao, Xin Liu, Hengjun Mei, Xiyue Zhou
Format: Article
Language:English
Published: BMC 2020-09-01
Series:BMC Ophthalmology
Subjects:
Congenital cataract
Gene mutation
Sporadic
Familial
NGS
Mutation spectrum
Online Access:http://link.springer.com/article/10.1186/s12886-020-01567-x

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http://link.springer.com/article/10.1186/s12886-020-01567-x

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