Article
Case report of a novel mutation in the TNC gene in Chinese patients with nonsyndromic hearing loss.
Medicine - 19 Apr 2024
Li Shouxia, Li Shurui, Chen Dingli, Zhao Subin, Liu Cairu, Zhang Ruimin, Chen Yongxue, Guo Xiangrui, Song Xuedong
Abstract excerpt
RATIONALE: Hereditary hearing loss is known to exhibit a significant degree of genetic heterogeneity. Herein, we present a case report of a novel mutation in the tenascin-C (TNC) gene in Chinese patients with nonsyndromic hearing loss (NSHL). PATIENT CONCERNS: This includes a young deaf couple and their 2-year-old baby. DIAGNOSES: Based on the clinical information, hearing test, metagenomic next-generation...
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