Moderate sensorineural hearing loss is typical for DFNB16 caused by various types of mutations affecting the STRC gene
Author:
Funder
Ministerstvo Zdravotnictví Ceské Republiky
Publisher
Springer Science and Business Media LLC
Subject
General Medicine,Otorhinolaryngology
Link
http://link.springer.com/content/pdf/10.1007/s00405-019-05649-5.pdf
Reference15 articles.
1. Morton CC, Nance WE (2006) Newborn hearing screening—a silent revolution. N Engl J Med 354(20):2151–2164. https://doi.org/10.1056/NEJMra050700
2. Fortnum HM, Summerfield AQ, Marshall DH, Davis AC, Bamford JM (2001) Prevalence of permanent childhood hearing impairment in the United Kingdom and implications for universal neonatal hearing screening: questionnaire based ascertainment study. BMJ 323(7312):536–540. https://doi.org/10.1136/bmj.323.7312.536
3. Faundes V, Pardo RA, Castillo Taucher S (2012) Genetics of congenital deafness. Med Clin (Barc) 139(10):446–451. https://doi.org/10.1016/j.medcli.2012.02.014
4. Van Camp G SR Hereditary Hearing Loss Homepage. https://hereditaryhearingloss.org . Accessed 5 Aug 2019
5. Tranebaerg L (2008) Genetics of congenital hearing impairment: a clinical approach. Int J Audiol 47(9):535–545. https://doi.org/10.1080/14992020802249259
Cited by 15 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Review and research gap identification in genetics causes of syndromic and nonsyndromic hearing loss in Saudi Arabia;Annals of Human Genetics;2024-03-22
2. Autosomal Recessive Non-Syndromic Deafness: Is AAV Gene Therapy a Real Chance?;Audiology Research;2024-02-22
3. MPZL2—a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population;BMC Medical Genomics;2024-01-23
4. MPZL2—A common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population;2023-08-31
5. Vertiges positionnels paroxystiques bénins récidivants chez deux enfants DFNB16 d’une même fratrie : cas clinique CARE;Annales françaises d'Oto-rhino-laryngologie et de Pathologie Cervico-faciale;2023-06
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3