Mutation screening of the USH2A gene reveals two novel pathogenic variants in Chinese patients causing simplex usher syndrome 2

Usher syndrome (USH) is the most prevalent cause of the human genetic deafness and blindness. USH type II (USH2) is the most common form of USH, and USH2A is the major pathogenic gene for USH2. For expanding the ...

Source: BMC Ophthalmology - February 24, 2020 Category: Opthalmology Authors: Chenhao He, Xinyu Liu, Zilin Zhong and Jianjun Chen Tags: Research article Source Type: research