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

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 ...

Source: BMC Ophthalmology - July 23, 2022 Category: Opthalmology Authors: Dongjun Xing, Rongguo Yu, Linni Wang, Liying Hu, Yang Yang, Chang Li, Zhiqing Li and Xiaorong Li Tags: Research Source Type: research