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Article

The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study.

Human genetics - 1 Apr 2022

Thorpe Ryan K, Azaiez Hela, Wu Peina, Wang Qiuju, Xu Lei, Dai Pu, Yang Tao, Schaefer G Bradley, Peters B Robert, Chan Kenny H, Schatz Krista S, Bodurtha Joann, Robin Nathaniel H, Hirsch Yoel, Rahbeeni Zuhair Abdalla, Yuan Huijun, Smith Richard J H

Abstract excerpt

Pathogenic variations in the OTOF gene are a common cause of hearing loss. To refine the natural history and genotype-phenotype correlations of OTOF-related auditory neuropathy spectrum disorders (ANSD), audiograms and distortion product otoacoustic emissions (DPOAEs) were collected from a diverse cohort of individuals diagnosed with OTOF-related ANSD by comprehensive genetic testing and also reported in the...

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Identifiers

PMID: 34424407
DOI: 10.1007/s00439-021-02340-w
PMCID: PMC9093589

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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