Familial Interstitial 6q23.2 Deletion Including Eya4 Associated With Otofaciocervical Syndrome
Author:
Publisher
Frontiers Media SA
Subject
Genetics(clinical),Genetics,Molecular Medicine
Reference24 articles.
1. Sensorineural hearing loss and mild cardiac phenotype caused by an EYA4 mutation;Abe;Hum. Genome. Var.,2018
2. Gene symbol: CMD1J. Disease: SensoriNeural Hearing Loss (SNHL);Arbustini Eloisa;Hum. Genet.,2005
3. Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences;Chang;Hum. Mutat.,2004
4. Otofaciocervical syndrome: a sporadic patient supports splitting from the branchio-oto-renal syndrome;Dallapiccola;J. Med. Genet.,1995
5. Eya4-deficient mice are a model for heritable otitis media;Depreux;J. Clin. Invest.,2008
Cited by 8 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. Identification of a novel mutation of EYA4 in a Chinese family with delayed nonsyndromic hearing loss and analysis of molecular epidemiology of EYA4 mutations;2024-03-25
2. A Novel Truncating Mutation in PAX1 Gene Causes Otofaciocervical Syndrome Without Immunodeficiency;Journal of Molecular Neuroscience;2023-11-04
3. Auricular fistula: a review of its clinical manifestations, genetics, and treatments;Journal of Molecular Medicine;2023-07-17
4. Identification of a novel CNV at the EYA4 gene in a Chinese family with autosomal dominant nonsyndromic hearing loss;BMC Medical Genomics;2022-05-16
5. One Genetic Defect and Two Related Entities in Monozygotic Twins: Otosclerosis and Superior Semicircular Canal Near Dehiscence Syndrome;Journal of Audiology and Otology;2021-11-09
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