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

• Main Authors: Lang Zhang (Author), Jin-Yuan Yang (Author), Qiu-Quan Wang (Author), Xue Gao (Author), Guo-Jian Wang (Author), Ming-Yu Han (Author), Dong-Yang Kang (Author), Dong-Yi Han (Author), Sha-Sha Huang (Author), Yong-Yi Yuan (Author)
• Format: Book
• Published: BMC, 2024-01-01T00:00:00Z.
• Subjects: article
• Online Access: 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...