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A novel variant in MITF in a child from Yunnan-Guizhou Plateau with autosomal dominant inheritance of nonsyndromic hearing loss: A case report.
Zhang, Zhen; Chen, Quan-Dong; Zhao, Li-Ping; Ma, Jing; Zhang, Tie-Song; Pang, Jing-Xue; Li, Yang-Fang; Wang, Mei-Fen; Wang, Ai-Ping; Tang, Li; Li, Li-Jun; He, Wen-Ji; Gu, Huaiyu.
Afiliación
  • Zhang Z; Department of Human Anatomy, Zhongshan School of Medicine, Sun Yat­Sen University, Guangzhou, Guangdong 510080, P.R. China.
  • Chen QD; Department of Otolaryngology­Head Neck Surgery, Kunming Children's Hospital, Kunming Medical University, Kunming, Yunnan 650228, P.R. China.
  • Zhao LP; Department of Otolaryngology­Head Neck Surgery, Kunming Children's Hospital, Kunming Medical University, Kunming, Yunnan 650228, P.R. China.
  • Ma J; Department of Otolaryngology­Head Neck Surgery, Kunming Children's Hospital, Kunming Medical University, Kunming, Yunnan 650228, P.R. China.
  • Zhang TS; Department of Otolaryngology­Head Neck Surgery, Kunming Children's Hospital, Kunming Medical University, Kunming, Yunnan 650228, P.R. China.
  • Pang JX; Department of Ultrasonic Cardiogram, Kunming Children's Hospital, Kunming Medical University, Kunming, Yunnan 650228, P.R. China.
  • Li YF; Department of Ultrasonic Cardiogram, Kunming Children's Hospital, Kunming Medical University, Kunming, Yunnan 650228, P.R. China.
  • Wang MF; Department of Ultrasonic Cardiogram, Kunming Children's Hospital, Kunming Medical University, Kunming, Yunnan 650228, P.R. China.
  • Wang AP; Department of Ultrasonic Cardiogram, Kunming Children's Hospital, Kunming Medical University, Kunming, Yunnan 650228, P.R. China.
  • Tang L; Department of Ultrasonic Cardiogram, Kunming Children's Hospital, Kunming Medical University, Kunming, Yunnan 650228, P.R. China.
  • Li LJ; Department of Ultrasonic Cardiogram, Kunming Children's Hospital, Kunming Medical University, Kunming, Yunnan 650228, P.R. China.
  • He WJ; Department of Ultrasonic Cardiogram, Kunming Children's Hospital, Kunming Medical University, Kunming, Yunnan 650228, P.R. China.
  • Gu H; Department of Human Anatomy, Zhongshan School of Medicine, Sun Yat­Sen University, Guangzhou, Guangdong 510080, P.R. China.
Mol Med Rep ; 17(4): 6054-6058, 2018 04.
Article en En | MEDLINE | ID: mdl-29484430
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Variación Genética / Sordera / Factor de Transcripción Asociado a Microftalmía / Estudios de Asociación Genética / Genes Dominantes Tipo de estudio: Prognostic_studies Límite: Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Mol Med Rep Año: 2018 Tipo del documento: Article
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Variación Genética / Sordera / Factor de Transcripción Asociado a Microftalmía / Estudios de Asociación Genética / Genes Dominantes Tipo de estudio: Prognostic_studies Límite: Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Mol Med Rep Año: 2018 Tipo del documento: Article