Identification of a novel CNV at the EYA4 gene in a Chinese family with autosomal dominant nonsyndromic hearing loss

Identification of a novel CNV at the EYA4 gene in a Chinese family with autosomal dominant nonsyndromic hearing loss

Abstract Background Hereditary hearing loss is a heterogeneous class of disorders that exhibits various patterns of inheritance and involves many genes. Variants in the EYA4 gene in DFNA10 are known to lead to postlingual, progressive, autosomal dominant nonsyndromic hereditary hearing loss. Patient...

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Bibliographic Details
Main Authors: Weixun Zhang, Jing Song, Busheng Tong, Mengye Ma, Luo Guo, Yasheng Yuan, Juanmei Yang
Format: Article
Language:English
Published: BMC 2022-05-01
Series:BMC Medical Genomics
Subjects:
EYA4
DFNA10
Copy number variation (CNV)
Deafness
Whole genome sequencing (WGS)
Online Access:https://doi.org/10.1186/s12920-022-01269-x

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