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Article

A novel intronic variant causing aberrant splicing identified in two deaf Chinese siblings with enlarged vestibular aqueducts.

Molecular genetics & genomic medicine - 1 Feb 2024

Wang Suyang, Zhu Yi-Ming, Xu ChenYang, Ding Wenjuan, Jia Hui, Bian Panpan, Xu Baicheng, Guo Yufen, Liu Xiaowen

Abstract excerpt

OBJECTIVE: We aimed to evaluate the genotype-phenotype relationship in two Chinese family members with enlarged vestibular aqueduct (EVA). METHODS: We collected blood samples and clinical data from each pedigree family member. Genomic DNA was isolated from peripheral leukocytes using standard methods. Targeted next-generation sequencing and Sanger sequencing were performed to find the pathogenic mutation in this...

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Identifiers

PMID: 38348997
DOI: 10.1002/mgg3.2361
PMCID: PMC10863356

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