A de novo mutation of the SOX10 gene associated with inner ear malformation in a Guangxi family with Waardenburg syndrome type II.

Niu, Zhijie; Lai, Yongjing; Tan, Songhua; Tang, Fen; Tang, Xianglong; Su, Yupei; Liu, Lei; Xie, Lihong; Fang, Qin; Xie, Mao; Tang, Anzhou

Niu, Zhijie; Lai, Yongjing; Tan, Songhua; Tang, Fen; Tang, Xianglong; Su, Yupei; Liu, Lei; Xie, Lihong; Fang, Qin; Xie, Mao; Tang, Anzhou.

Afiliação

Niu Z; Department of Otolaryngology-Head and Neck Surgery, The First Affiliated Hospital of Guangxi Medical University, Nanning, 530021, China. Electronic address: niuzhijie@gxmu.edu.cn.
Lai Y; Department of Otolaryngology-Head and Neck Surgery, The First Affiliated Hospital of Guangxi Medical University, Nanning, 530021, China.
Tan S; Department of Otolaryngology-Head and Neck Surgery, The First Affiliated Hospital of Guangxi Medical University, Nanning, 530021, China.
Tang F; The People's Hospital of Guangxi Zhuang Autonomous Region, Nanning, 530021, China.
Tang X; Department of Otolaryngology-Head and Neck Surgery, The First Affiliated Hospital of Guangxi Medical University, Nanning, 530021, China.
Su Y; Department of Otolaryngology-Head and Neck Surgery, The First Affiliated Hospital of Guangxi Medical University, Nanning, 530021, China.
Liu L; Department of Otolaryngology-Head and Neck Surgery, The First Affiliated Hospital of Guangxi Medical University, Nanning, 530021, China.
Xie L; Department of Otolaryngology-Head and Neck Surgery, The First Affiliated Hospital of Guangxi Medical University, Nanning, 530021, China.
Fang Q; Department of Otolaryngology-Head and Neck Surgery, The First Affiliated Hospital of Guangxi Medical University, Nanning, 530021, China.
Xie M; Department of Otolaryngology-Head and Neck Surgery, The First Affiliated Hospital of Guangxi Medical University, Nanning, 530021, China.
Tang A; Department of Otolaryngology-Head and Neck Surgery, The First Affiliated Hospital of Guangxi Medical University, Nanning, 530021, China; Regional Key Laboratory of Early Prevention and Treatment of High-Rise Tumors, Nanning, 530021, China. Electronic address: anzhoutang@126.com.

Int J Pediatr Otorhinolaryngol ; 145: 110711, 2021 Jun.

Article em En | MEDLINE | ID: mdl-33865100

Assuntos

Orelha Interna; Fatores de Transcrição SOXE; Síndrome de Waardenburg; China; Cor de Olho; Humanos; Mutação; Linhagem; Fatores de Transcrição SOXE/genética; Síndrome de Waardenburg/genética

Palavras-chave

De novo mutation; Exome sequence; SOX10; Waardenburg syndrome

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Waardenburg / Fatores de Transcrição SOXE / Orelha Interna Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans País como assunto: Asia Idioma: En Ano de publicação: 2021 Tipo de documento: Article

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