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Hearing loss secondary to variants in the OTOF gene.

Carmelo Morales-AnguloJaime Gallo-TeránRocío González-AguadoEsther OnechaIgnacio Del Castillo
Published in: International journal of pediatric otorhinolaryngology (2024)
Hearing loss secondary to the p. Gln829* variant of the OTOF gene is relatively rare in our medical area. Its presence in homozygosity is the cause of severe/profound bilateral prelingual sensorineural hearing loss, responsible for auditory neuropathy with a good response to cochlear implantation.
Keyphrases
  • hearing loss
  • copy number
  • genome wide
  • healthcare
  • genome wide identification
  • early onset
  • gene expression
  • working memory
  • case report
  • genome wide analysis
  • transcription factor