A Novel Exon 2 Deletion Mutation in the GRXCR1 Gene Associated With Non-Syndromic Hearing Loss: A Case Report and Review of Literatures.

Hadith RastadParham SamimisedehShahram SavadMahnaz Seifi Alan

Published in: The Annals of otology, rhinology, and laryngology (2023)

gene mutation related to congenital hearing loss in a family. Our study highlights the efficiency of exome sequencing in discovering gene mutations in cases of diseases with genetic heterogeneity.

Keyphrases

hearing loss
copy number
single cell
genome wide
intellectual disability
dna methylation
autism spectrum disorder