Apparent homozygosity for a novel splicing variant in EPS8 causes congenital profound hearing loss.

Yu, Sha; Chen, Wen-Xia; Zhang, Yun-Fei; Ni, Yihua; Lu, Ping; Wang, Bin; Wang, Yan; Wu, Bingbing; Ni, Qi; Wang, Huijun; Xu, Zheng-Min

Yu, Sha; Chen, Wen-Xia; Zhang, Yun-Fei; Ni, Yihua; Lu, Ping; Wang, Bin; Wang, Yan; Wu, Bingbing; Ni, Qi; Wang, Huijun; Xu, Zheng-Min.

Afiliação

Yu S; Department of Otolaryngology-Head and Neck Surgery, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Chen WX; Department of Otolaryngology-Head and Neck Surgery, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Zhang YF; Department of Otolaryngology-Head and Neck Surgery, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Ni Y; Department of Otolaryngology-Head and Neck Surgery, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Lu P; Department of Otolaryngology-Head and Neck Surgery, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Wang B; Department of Otolaryngology-Head and Neck Surgery, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Wang Y; Department of Otolaryngology-Head and Neck Surgery, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Wu B; Center for Molecular Medicine, Pediatrics Research Institute, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Ni Q; Center for Molecular Medicine, Pediatrics Research Institute, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Wang H; Center for Molecular Medicine, Pediatrics Research Institute, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China. Electronic address: huijunwang@fudan.edu.cn.
Xu ZM; Department of Otolaryngology-Head and Neck Surgery, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China. Electronic address: 13916320945@163.com.

Eur J Med Genet ; 64(12): 104362, 2021 Dec.

Article em En | MEDLINE | ID: mdl-34637946

Assuntos

Proteínas Adaptadoras de Transdução de Sinal/genética; Surdez/genética; Perda Auditiva Neurossensorial/genética; Mutação/genética; Splicing de RNA/genética; Alelos; Povo Asiático/genética; Exoma/genética; Feminino; Homozigoto; Humanos; Lactente; Masculino; Linhagem

Palavras-chave

Apparent homozygosity; Autosomal recessive deafness-102; Deletion; EPS8; Hearing loss; In vitro splicing assays

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Splicing de RNA / Surdez / Proteínas Adaptadoras de Transdução de Sinal / Perda Auditiva Neurossensorial / Mutação Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Female / Humans / Infant / Male Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: China País de publicação: Holanda

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