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A novel dominant mutation in the SOX10 gene in a Chinese family with Waardenburg syndrome type II.
Ma, Jing; Zhang, Zhen; Jiang, Hong-Chao; Sun, Hao; Ming, Cheng; Zhao, Li-Ping; Gao, Ying-Qin; Li, Zheng-Cai; Sun, Mei-Hua; Xiao, Yang; Wu, Guo-Li; Zhang, Tie-Song; Ruan, Biao.
  • Ma J; Department of Otolaryngology, Head and Neck Surgery, Kunming Children's Hospital, Kunming, Yunnan 650228, P.R. China.
  • Zhang Z; Yunnan Pediatric Institute, Kunming Children's Hospital, Kunming, Yunnan 650228, P.R. China.
  • Jiang HC; Yunnan Pediatric Institute, Kunming Children's Hospital, Kunming, Yunnan 650228, P.R. China.
  • Sun H; Institute of Medical Biology, Chinese Academy of Medical Sciences and Peking Union of Medical College, Kunming, Yunnan 650118, P.R. China.
  • Ming C; Department of Otolaryngology, Head and Neck Surgery, Kunming Children's Hospital, Kunming, Yunnan 650228, P.R. China.
  • Zhao LP; Department of Otolaryngology, Head and Neck Surgery, Kunming Children's Hospital, Kunming, Yunnan 650228, P.R. China.
  • Gao YQ; Department of Otolaryngology, Head and Neck Surgery, Kunming Children's Hospital, Kunming, Yunnan 650228, P.R. China.
  • Li ZC; Department of Otolaryngology, Head and Neck Surgery, Kunming Children's Hospital, Kunming, Yunnan 650228, P.R. China.
  • Sun MH; Department of Otolaryngology, Head and Neck Surgery, Kunming Children's Hospital, Kunming, Yunnan 650228, P.R. China.
  • Xiao Y; Department of Otolaryngology, Head and Neck Surgery, Kunming Children's Hospital, Kunming, Yunnan 650228, P.R. China.
  • Wu GL; Yunnan Rehabilitation School For Children With Hearing Impairment, Kunming, Yunnan 650100, P.R. China.
  • Zhang TS; Department of Otolaryngology, Head and Neck Surgery, Kunming Children's Hospital, Kunming, Yunnan 650228, P.R. China.
  • Ruan B; Department of Otolaryngology, First Hospital of Kunming Medical University, Kunming, Yunnan 650032, P.R. China.
Mol Med Rep ; 19(3): 1775-1780, 2019 Mar.
Article en En | MEDLINE | ID: mdl-30628718

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Síndrome de Waardenburg / Color del Ojo / Predisposición Genética a la Enfermedad / Factores de Transcripción SOXE Tipo de estudio: Prognostic_studies Límite: Female / Humans / Male País como asunto: Asia Idioma: En Año: 2019 Tipo del documento: Article

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Síndrome de Waardenburg / Color del Ojo / Predisposición Genética a la Enfermedad / Factores de Transcripción SOXE Tipo de estudio: Prognostic_studies Límite: Female / Humans / Male País como asunto: Asia Idioma: En Año: 2019 Tipo del documento: Article