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Article

[Clinical hearing phenotypes analysis of GJB2 gene p.V37I homozygote and compound heterozygote mutation in infants].

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery - 1 Dec 2024

Ruan Yu, Wen Cheng, Cheng Xiaohua, Zhang Wei, Xie Jinge, Li Yue, Deng Lin, Huang Lihui

Abstract excerpt

Objective:To analyze the hearing phenotypes of p. V37I homozygote and compound heterozygote mutation in GJB2 gene, and to provide basis for genetic counseling. Methods:Fifty-three subjects with p. V37I homozygote and compound heterozygote mutation were recruited at Department of Otolaryngology Head and Neck Surgery, Beijing Tongren Hospital from January 2023 to March 2024. All subjects received universal newborn...

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PMID: 39605257
DOI: 10.13201/j.issn.2096-7993.2024.12.003

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