COCH基因中导致听力损失和前庭功能障碍的致病变异:DFNA9的最新进展和DFNB110的介绍

{"title":"COCH基因中导致听力损失和前庭功能障碍的致病变异:DFNA9的最新进展和DFNB110的介绍","authors":"V. van Rompaey, H.J.C. Gommeren, Joyce Bosmans, Dorien Verdoodt, Sebastien JanssensdeVarebeke, E. de Vrieze, R. Pennings, R. van de Berg, M. Lammers, O. Vanderveken, E. Fransen, G. Van Camp, E. van Wijk","doi":"10.5152/b-ent.2022.21791","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":54251,"journal":{"name":"B-Ent","volume":" ","pages":""},"PeriodicalIF":0.2000,"publicationDate":"2022-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"2","resultStr":"{\"title\":\"Pathogenic Variants in the COCH Gene That Lead to Hearing Loss and Vestibular Deficit: Update on DFNA9 and Introducing DFNB110\",\"authors\":\"V. van Rompaey, H.J.C. Gommeren, Joyce Bosmans, Dorien Verdoodt, Sebastien JanssensdeVarebeke, E. de Vrieze, R. Pennings, R. van de Berg, M. Lammers, O. Vanderveken, E. Fransen, G. Van Camp, E. van Wijk\",\"doi\":\"10.5152/b-ent.2022.21791\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":54251,\"journal\":{\"name\":\"B-Ent\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":0.2000,\"publicationDate\":\"2022-05-20\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"2\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"B-Ent\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.5152/b-ent.2022.21791\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"B-Ent","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.5152/b-ent.2022.21791","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}