Article
A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family.
BMC medical genetics - 9 Jun 2020
Sarmadi Akram, Nasrniya Samane, Soleimani Farsani Maryam, Narrei Sina, Nouri Zahra, Sepehrnejad Mahsa, Nilforoush Mohammad Hussein, Abtahi Hamidreza, Tabatabaiefar Mohammad Amin
Abstract excerpt
BACKGROUND: Hearing loss (HL) is the most common sensorineural disorder with high phenotypic and genotypic heterogeneity, which negatively affects life quality. Autosomal recessive non-syndromic hearing loss (ARNSHL) constitutes a major share of HL cases. In the present study, Whole exome sequencing (WES) was applied to investigate the underlying etiology of HL in an Iranian patient with ARNSHL. METHODS: A...
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