A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family

• Main Authors: Akram Sarmadi (Author), Samane Nasrniya (Author), Maryam Soleimani Farsani (Author), Sina Narrei (Author), Zahra Nouri (Author), Mahsa Sepehrnejad (Author), Mohammad Hussein Nilforoush (Author), Hamidreza Abtahi (Author), Mohammad Amin Tabatabaiefar (Author)
• Format: Knjiga
• Izdano: BMC, 2020-06-01T00:00:00Z.
• Teme: article
• Online dostop: Connect to this object online.

Abstract 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 se...