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Article

MPZL2 variant analysis with whole exome sequencing in a cohort of Chinese hearing loss patients.

International journal of pediatric otorhinolaryngology - 1 Aug 2023

Li Weitao, Guo Luo, Chen Bing, Shu Yilai, Li Huawei

Abstract excerpt

BACKGROUND: Hearing loss is a genetically heterogeneous disease with more than 100 genes identified. Pathogenic variants in the MPZL2 gene cause autosomal recessive non-syndromic hearing loss. MPZL2 patients showed mild to moderate progressive hearing loss with onset age around 10 years old. To date, four pathogenic variants have been identified. AIMS: To explore the clinical characteristics and variants of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 37390746
DOI: 10.1016/j.ijporl.2023.111635

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