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

• Asıl Yazarlar: Akram Sarmadi (Yazar), Samane Nasrniya (Yazar), Maryam Soleimani Farsani (Yazar), Sina Narrei (Yazar), Zahra Nouri (Yazar), Mahsa Sepehrnejad (Yazar), Mohammad Hussein Nilforoush (Yazar), Hamidreza Abtahi (Yazar), Mohammad Amin Tabatabaiefar (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: BMC, 2020-06-01T00:00:00Z.
• Konular: article
• Online Erişim: 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...