A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family.
Akram SarmadiSamane NasrniyaMaryam Soleimani FarsaniSina NarreiZahra NouriMahsa SepehrnejadMohammad Hussein NilforoushHamidreza AbtahiMohammad Amin TabatabaiefarPublished in: BMC medical genetics (2020)
Here, we report successful application of WES to identify the molecular pathogenesis of ARNSHL, which is a genetically heterogeneous disorder, in a patient with ARNSHL.