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Article

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

Orphanet journal of rare diseases - 8 Jan 2025

Cao Yang, Zhang Xiaolong, Lan Lan, Li Danyang, Li Jin, Xie Linyi, Xiong Fen, Yu Lan, Wu Xiaonan, Wang Hongyang, Wang Qiuju

Abstract excerpt

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 which result in non-isolated AN, FDXR and TWNK, providing a summary and enrichment analysis of genes associated with...

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Adolescent
Child
Child, Preschool
East Asian People
Exome Sequencing

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PMID: 39780253
DOI: 10.1186/s13023-025-03540-7
PMCID: PMC11715445

Genes

FDXR
TWNK

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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