Article
Hearing Screening Combined with Target Gene Panel Testing Increased Etiological Diagnostic Yield in Deaf Children.
Neural plasticity - 1 Jan 2021
Xie Le, Qiu Yue, Jin Yuan, Xu Kai, Bai Xue, Liu Xiao-Zhou, Wang Xiao-Hui, Chen Sen, Sun Yu
Abstract excerpt
Genetic testing is the gold standard for exploring the etiology of congenital hearing loss. Here, we enrolled 137 Chinese patients with congenital hearing loss to describe the molecular epidemiology by using 127 gene panel testing or 159 variant testing. Sixty-three deaf children received 127 gene panel testing, while seventy-four patients received 159 variant testing. By use of 127 gene panel testing, more...
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