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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Autors principals:	Dongjun Xing, Rongguo Yu, Linni Wang, Liying Hu, Yang Yang, Chang Li, Zhiqing Li, Xiaorong Li
Format:	Artigo
Idioma:	Inglês
Publicat:	BMC 2022-07-01
Col·lecció:	BMC Ophthalmology
Matèries:	Usher syndrome USH2A Targeted exome sequencing Mutation
Accés en línia:	https://doi.org/10.1186/s12886-022-02532-6
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