Novel biallelic variants in the PLEC gene are associated with severe hearing loss.

Zhang, Tianyang; Xu, Zhenhang; Zheng, Danya; Wang, Xuechun; He, Jingchun; Zhang, Luping; Zallocchi, Marisa

Zhang, Tianyang; Xu, Zhenhang; Zheng, Danya; Wang, Xuechun; He, Jingchun; Zhang, Luping; Zallocchi, Marisa.

Afiliação

Zhang T; Department of Otolaryngology-Head and Neck Surgery, Affiliated Hospital of Nantong University, Medical School of Nantong University, Nantong, China; Department of Otorhinolaryngology Head and Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China. Electronic
Xu Z; Department of Biomedical Sciences, School of Medicine, Creighton University, Omaha, United States; Department of Otolaryngology, Xiangya Hospital, Central South University, Changsha, China. Electronic address: zhenhang.xu@gmail.com.
Zheng D; Department of Otolaryngology-Head and Neck Surgery, Affiliated Hospital of Nantong University, Medical School of Nantong University, Nantong, China. Electronic address: 674620964@qq.com.
Wang X; Department of Otolaryngology-Head and Neck Surgery, Affiliated Hospital of Nantong University, Medical School of Nantong University, Nantong, China. Electronic address: wxc2020zbd@163.com.
He J; Department of Otorhinolaryngology Head and Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China. Electronic address: hejingchun@xinhuamed.com.cn.
Zhang L; Department of Otolaryngology-Head and Neck Surgery, Affiliated Hospital of Nantong University, Medical School of Nantong University, Nantong, China. Electronic address: zhanglp910@126.com.
Zallocchi M; Department of Biomedical Sciences, School of Medicine, Creighton University, Omaha, United States. Electronic address: marisazallocchi@creighton.edu.

Hear Res ; 436: 108831, 2023 09 01.

Article em En | MEDLINE | ID: mdl-37393735

Assuntos

Surdez; Perda Auditiva; Camundongos; Animais; Plectina/genética; Peixe-Zebra/genética; Perda Auditiva/genética

Palavras-chave

Auditory neuropathy spectrum disorder; Mitochondrial dysfunction; Plectin; Ribbon synapses

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Surdez / Perda Auditiva Tipo de estudo: Risk_factors_studies Limite: Animals Idioma: En Revista: Hear Res Ano de publicação: 2023 Tipo de documento: Article País de publicação: Holanda

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