单位：[1]Department of Otorhinolaryngology-Head and Neck Surgery, Beijing Friendship Hospital, 26455Capital Medical University, Beijing, China.首都医科大学附属北京友谊医院[2]556621House Clinic and House Institute Foundation, Los Angeles, CA, USA.
MYH9 is a gene that encodes for a subunit of the myosin heavy chain IIA protein. Mutations in MYH9 are associated with hematologic abnormalities, renal dysfunction, and hearing loss. Bony cochlear nerve canal stenosis (CNCS), which is diagnosed on computed tomography (CT) imaging, has been associated with congenital deafness, cochlear nerve aplasia/hypoplasia, and inner ear malformations. We report two cases of CNCS presenting with profound congenital hearing loss whom we diagnosed with mutations in MYH9 and discuss the genotype-phenotype association and implications for management.
第一作者单位：[1]Department of Otorhinolaryngology-Head and Neck Surgery, Beijing Friendship Hospital, 26455Capital Medical University, Beijing, China.
通讯作者：
通讯机构：[1]Department of Otorhinolaryngology-Head and Neck Surgery, Beijing Friendship Hospital, 26455Capital Medical University, Beijing, China.[*1]Department of Otorhinolaryngology–Head and Neck Surgery, Beijing Friendship Hospital, Capital Medical University, 95th Yong’an Road, Xicheng District, Beijing 100050, China
推荐引用方式(GB/T 7714)：
Liang Wenqi,Wang Line,Zheng Wenrui,et al.Heterozygous MYH9 Mutations in 2 Children With Cochlear Nerve Canal Stenosis[J].Ear, Nose, & Throat Journal.2022,1455613221135644.doi:10.1177/01455613221135644.
APA：
Liang Wenqi,Wang Line,Zheng Wenrui,Han Shuguang&Peng Kevin A.(2022).Heterozygous MYH9 Mutations in 2 Children With Cochlear Nerve Canal Stenosis.Ear, Nose, & Throat Journal,,
MLA：
Liang Wenqi,et al."Heterozygous MYH9 Mutations in 2 Children With Cochlear Nerve Canal Stenosis".Ear, Nose, & Throat Journal .(2022):1455613221135644
