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Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss: a case report.

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第一作者： Lukas,Varga

第一单位： Department of Otorhinolaryngology - Head and Neck Surgery, Faculty of Medicine and University Hospital, Comenius University, Bratislava, Slovakia.;Diabgene Laboratory, Biomedical Research Center, University Science Park for Biomedicine, Slovak Academy of Sciences, Bratislava, Slovakia.

作者： Lukas,Varga ^[1] ; Daniel,Danis ^[2] ; Martina,Skopkova ^[2] ; Ivica,Masindova ^[2] ; Zuzana,Slobodova ^[1] ; Lucia,Demesova ^[3] ; Milan,Profant ^[3] ; Daniela,Gasperikova ^[4]

作者单位： Department of Otorhinolaryngology - Head and Neck Surgery, Faculty of Medicine and University Hospital, Comenius University, Bratislava, Slovakia.;Diabgene Laboratory, Biomedical Research Center, University Science Park for Biomedicine, Slovak Academy of Sciences, Bratislava, Slovakia. ^[1] Diabgene Laboratory, Biomedical Research Center, University Science Park for Biomedicine, Slovak Academy of Sciences, Bratislava, Slovakia. ^[2] Department of Otorhinolaryngology - Head and Neck Surgery, Faculty of Medicine and University Hospital, Comenius University, Bratislava, Slovakia. ^[3] Diabgene Laboratory, Biomedical Research Center, University Science Park for Biomedicine, Slovak Academy of Sciences, Bratislava, Slovakia. daniela.gasperikova@savba.sk. ^[4]

关键词 Autosomal dominant Next-generation sequencing Postlingual Sensorineural deafness