MPZL2-a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population

• Główni autorzy: Lang Zhang (Autor), Jin-Yuan Yang (Autor), Qiu-Quan Wang (Autor), Xue Gao (Autor), Guo-Jian Wang (Autor), Ming-Yu Han (Autor), Dong-Yang Kang (Autor), Dong-Yi Han (Autor), Sha-Sha Huang (Autor), Yong-Yi Yuan (Autor)
• Format: Książka
• Wydane: BMC, 2024-01-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: Connect to this object online.

Abstract Background Mutations in MPZL2, the characteristic genetic etiology of autosomal recessive deafness loci 111 (DFNB111), cause non-syndromic and moderate sensorineural hearing loss. Methods In this study, we analyzed the phenotype and genotype of eight pedigrees consisting of 10 hearing loss...