Identification of genetic mechanisms of non-isolated auditory neuropathy with various phenotypes in Chinese families

Identification of genetic mechanisms of non-isolated auditory neuropathy with various phenotypes in Chinese families

Abstract Background Non-isolated auditory neuropathy (AN), or syndromic AN, is marked by AN along with additional systemic manifestations. The diagnostic process is challenging due to its varied symptoms and overlap with other syndromes. This study focuses on two mitochondrial function-related genes...

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Bibliographic Details
Main Authors: Yang Cao, Xiaolong Zhang, Lan Lan, Danyang Li, Jin Li, Linyi Xie, Fen Xiong, Lan Yu, Xiaonan Wu, Hongyang Wang, Qiuju Wang
Format: Article
Language:English
Published: BMC 2025-01-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Non-isolated auditory neuropathy
Hereditary deafness
FDXR
TWNK
Syndrome
Online Access:https://doi.org/10.1186/s13023-025-03540-7
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