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Article

[Mutation spectrum analysis of 23-site chip neonatal deafness genetic screening].

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

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

Abstract excerpt

Objective:To analyze the mutation spectrum of 23-site chip newborn deafness genetic screening in Beijing, and to provide basis for genetic counseling and clinical diagnosis and treatment. Methods:The study included 21 006 babies born in Beijing from December 2022 to June 2023. All subjects underwent newborn deafness genetic screening in Beijing Tongren Hospital, covering 23 variants in 4 genes, the GJB2...

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Identifiers

PMID: 38563166
DOI: 10.13201/j.issn.2096-7993.2024.04.001
PMCID: PMC11387295

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