Novel compound heterozygous mutations in MYO7A gene associated with autosomal recessive sensorineural hearing loss in a Chinese family.

@article{Ma2016NovelCH,
  title={Novel compound heterozygous mutations in MYO7A gene associated with autosomal recessive sensorineural hearing loss in a Chinese family.},
  author={Yalin Ma and Yun Xiao and Fengguo Zhang and Yuechen Han and Jianfeng Li and Lei Xu and Xiaohui Bai and Haibo Wang},
  journal={International journal of pediatric otorhinolaryngology},
  year={2016},
  volume={83},
  pages={179-85}
}
OBJECTIVES Mutations in MYO7A gene have been reported to be associated with Usher Syndrome type 1B (USH1B) and nonsyndromic hearing loss (DFNB2, DFNA11). Most mutations in MYO7A gene caused USH1B, whereas only a few reported mutations led to DFNB2 and DFNA11. The current study was designed to investigate the mutations among a Chinese family with autosomal recessive hearing loss. METHODS In this study, we present the clinical, genetic and molecular characteristics of a Chinese family. Targeted… CONTINUE READING
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