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Identification and functional analysis of a novel missense mutation of PAX3 associated with Waardenburg syndrome type I.
Niu, Zhijie; Mei, Lingyun; Tang, Fen; Li, Jiada; Wang, Xueping; Sun, Jie; He, Chufeng; Cheng, Hongsheng; Liu, Yalan; Cai, Xinzhang; Song, Jian; Feng, Yong; Jiang, Lu.
  • Niu Z; Department of Otolaryngology-Head and Neck Surgery, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, 410008, Hunan, People's Republic of China.
  • Mei L; Key Laboratory of Otolaryngology Major Disease Research of Hunan Province, Changsha, 410008, China.
  • Tang F; Department of Otolaryngology-Head and Neck Surgery, The First Affiliated Hospital of Guangxi Medical University, Nanning, 530000, China.
  • Li J; Department of Otolaryngology-Head and Neck Surgery, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, 410008, Hunan, People's Republic of China.
  • Wang X; Key Laboratory of Otolaryngology Major Disease Research of Hunan Province, Changsha, 410008, China.
  • Sun J; Department of Ophthalmology, The People's Hospital of Guangxi Zhuang Autonomous Region, Nanning, 530000, China.
  • He C; Key Laboratory of Medical Genetics of Hunan Province, Central South University, Changsha, 410008, China.
  • Cheng H; Department of Otolaryngology-Head and Neck Surgery, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, 410008, Hunan, People's Republic of China.
  • Liu Y; Key Laboratory of Otolaryngology Major Disease Research of Hunan Province, Changsha, 410008, China.
  • Cai X; Department of Otolaryngology-Head and Neck Surgery, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, 410008, Hunan, People's Republic of China.
  • Song J; Key Laboratory of Otolaryngology Major Disease Research of Hunan Province, Changsha, 410008, China.
  • Feng Y; Department of Otolaryngology-Head and Neck Surgery, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, 410008, Hunan, People's Republic of China.
  • Jiang L; Key Laboratory of Otolaryngology Major Disease Research of Hunan Province, Changsha, 410008, China.
Eur Arch Otorhinolaryngol ; 278(8): 2807-2815, 2021 Aug.
Article en En | MEDLINE | ID: mdl-32940795

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Síndrome de Waardenburg / Factor de Transcripción PAX3 Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Año: 2021 Tipo del documento: Article

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Síndrome de Waardenburg / Factor de Transcripción PAX3 Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Año: 2021 Tipo del documento: Article