Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss

Usher syndrome, the most common form of inherited deaf-blindness, is unlike many other forms of syndromic hereditary hearing loss in that the extra aural clinical manifestations are also detrimental to communi...

Source: BMC Medical Genetics - May 2, 2019 Category: Genetics & Stem Cells Authors: Justin A. Pater, Jane Green, Darren D. O ’Rielly, Anne Griffin, Jessica Squires, Taylor Burt, Sara Fernandez, Bridget Fernandez, Jim Houston, Jiayi Zhou, Nicole M. Roslin and Terry-Lynn Young Tags: Research article Source Type: research