Novel mutations of the USH2A gene cause Usher syndrome in five Chinese families

Novel mutations of the USH2A gene cause Usher syndrome in five Chinese families

Abstract Background Usher syndrome (USH) is a leading disorder of deaf–blindness. The phenotypic and genetic heterogeneity of USH makes the diagnosis of this disorder difficult. However, diagnosis can be facilitated by employing molecular approaches, especially for diseases without pronounced pathog...

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Bibliographic Details
Main Authors: Dongjun Xing, Rongguo Yu, Linni Wang, Liying Hu, Yang Yang, Chang Li, Zhiqing Li, Xiaorong Li
Format: Article
Language:English
Published: BMC 2022-07-01
Series:BMC Ophthalmology
Subjects:
Usher syndrome
USH2A
Targeted exome sequencing
Mutation
Online Access:https://doi.org/10.1186/s12886-022-02532-6

Internet

https://doi.org/10.1186/s12886-022-02532-6

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