Article

Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients

2021-12-10

Abstract excerpt

Bi-allelic loss-of-function variants of OTOA are a well-known cause of moderate-to-severe hearing loss. Whereas non-allelic homologous recombination-mediated deletions of the gene are well known, gene conversions to pseudogene OTOAP1 have been reported in the literature but never fully described nor their pathogenicity assessed. Here, we report two unrelated patients with moderate hearing-loss, who were comp...

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Literature Corpus work: 02faa747-3898-5eeb-9723-54daba84f6aa
DOI: 10.22541/au.160034228.86260436/v2

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