Article
[Nonsyndromic deafness due to compound heterozygous mutation of the CDH23 gene].
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery - 1 Mar 2021
Liu Xiaozhou, Chen Sen, Sun Yu, Kong Weijia
Abstract excerpt
Objective:To identify the pathogenic gene mutation of two patients with non-syndromic deafness（NSHL）. Methods:Two patient with NSHL and their parents were selected in the research object. Each participant provided 3-5 mL of peripheral venous blood, which was used to establish a DNA library. Next generation sequencing was used to detect the sequence of the patient's genome, and the sequencing results were compared...
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