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Cochlear Nerve Canal Stenosis: Association With MYH14 and MYH9 Genes

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单位: [1]Department of Otorhinolaryngology–Head and Neck Surgery, Beijing Friendship Hospital, Capital Medical University, Beijing, People’s Republic of China [2]LACtUSC Medical Center, Los Angeles, CA, USA [3]House Clinic and House Ear Institute, Los Angeles, CA, USA
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关键词: cochlear nerve canal stenosis congenital hearing loss nonsyndromic hearing loss pediatric hearing loss inner ear malformation cochlear implant

摘要:
The bony cochlear nerve canal transmits the cochlear nerve as it passes from the fundus of the internal auditory canal to the cochlea. Stenosis of the cochlear nerve canal, defined as a diameter less than 1.0 mm in transverse diameter, is associated with inner ear anomalies and severe to profound congenital hearing loss. We describe an 11-month-old infant with nonsyndromic congenital sensorineural hearing loss with cochlear nerve canal stenosis. Next-generation sequencing revealed heterozygous mutations in MYH9 and MYH14, encoding for the inner ear proteins myosin heavy chain IIA and IIC. The patient's hearing was rehabilitated with bilateral cochlear implantation.

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出版当年[2020]版:
大类 | 4 区 医学
小类 | 4 区 耳鼻喉科学
最新[2025]版:
大类 | 4 区 医学
小类 | 4 区 耳鼻喉科学
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出版当年[2019]版:
Q4 OTORHINOLARYNGOLOGY
最新[2023]版:
Q3 OTORHINOLARYNGOLOGY

影响因子: 最新[2023版] 最新五年平均[2021-2025] 出版当年[2019版] 出版当年五年平均[2015-2019] 出版前一年[2018版] 出版后一年[2020版]

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第一作者单位: [1]Department of Otorhinolaryngology–Head and Neck Surgery, Beijing Friendship Hospital, Capital Medical University, Beijing, People’s Republic of China
通讯作者:
通讯机构: [1]Department of Otorhinolaryngology–Head and Neck Surgery, Beijing Friendship Hospital, Capital Medical University, Beijing, People’s Republic of China [*1]Department of Otorhinolaryngology–Head and Neck Surgery, Beijing Friendship Hospital, Capital Medical University, 95th Yong’an Road, Xicheng District, Beijing 100050, People’s Republic of China.
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