Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5714726 | International Journal of Pediatric Otorhinolaryngology | 2017 | 18 Pages |
Abstract
This study demonstrates that the novel mutation c.3847_3848insTCTG (p. N1285LfsX24) in compound heterozygosity with c.2239_2240delAG in the MYO7A gene is the main cause of USH1 in the proband. Our study expands the mutational spectrum of MYO7A and provides a foundation for further investigations elucidating the MYO7A-related mechanisms of USH1.
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Authors
Xiaoguang He, Qi Peng, Siping Li, Pengyuan Zhu, Chunqiu Wu, Chunbao Rao, Jingqi Lin, Xiaomei Lu,