Significant Mendelian genetic contribution to pediatric mild-to-moderate hearing loss and its comprehensive diagnostic approach.

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作者： Bong Jik,Kim ^[1] ; Doo-Yi,Oh ^[2] ; Jin Hee,Han ^[3] ; Jayoung,Oh ^[3] ; Min Young,Kim ^[3] ; Hye-Rim,Park ^[3] ; Jungirl,Seok ^[3] ; Sung-Dong,Cho ^[4] ; Sang-Yeon,Lee ^[5] ; Yoonjoong,Kim ^[3] ; Marge,Carandang ^[3] ; In Sun,Kwon ^[3] ; Seungmin,Lee ^[6] ; Jeong Hun,Jang ^[7] ; Yun-Hoon,Choung ^[8] ; Sejoon,Lee ^[9] ; Hakmin,Lee ^[9] ; Sang Mee,Hwang ^[10] ; Byung Yoon,Choi ^[11]

作者单位： Department of Otolaryngology-Head and Neck Surgery, Chungnam National University College of Medicine, Daejeon, Korea. ^[1] Brain Research Institute, Chungnam National University College of Medicine, Daejeon, Korea. ^[2] Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, Korea. ^[3] Department Otolaryngology-Head and Neck Surgery, National Cancer Center, Goyang, Korea. ^[4] Department of Biomedical Engineering, College of Medicine, Seoul National University, Seoul, Korea. ^[5] Department of Otorhinolaryngology-Head and Neck Surgery, East Avenue Medical Center, Metro Manila, Philippines. ^[6] Chungnam National University Hospital Clinical Trials Center, Daejeon, Korea. ^[7] R&D Center, ENCell Co.Ltd, Seoul, Korea. ^[8] Department of Otolaryngology, Ajou University School of Medicine, Suwon, Korea. ^[9] Department of Pathology, Seoul National University Bundang Hospital, Seongnam, Korea. ^[10] Department of Urology, Seoul National University Bundang Hospital, Seongnam, Korea. ^[11] Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Korea. ^[12] Department of Laboratory Medicine, Seoul National University Bundang Hospital, Seongnam, Korea. ^[13] Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, Korea. choiby2010@gmail.com. ^[14] Sensory Organ Research Institute, Seoul National University Medical Research Center, Seoul, Korea. choiby2010@gmail.com. ^[15]

关键词 Mendelian genetic etiology STRC copy-number variation (CNV)mild-to-moderate pediatric sensorineural hearing loss (SNHL)

主题词儿童(Child);基因检测(Genetic Testing);听觉丧失(Hearing Loss);听觉丧失, 感音神经性(Hearing Loss, Sensorineural);纯合子(Homozygote);人类(Humans);胞间信号肽类和蛋白质类(Intercellular Signaling Peptides and Proteins)

DOI 10.1038/s41436-020-0774-9

PMID 32203226

发布时间 2022-02-10

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