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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.
Afiliação
  • 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 em En | MEDLINE | ID: mdl-29484430
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Surdez / Fator de Transcrição Associado à Microftalmia / Estudos de Associação Genética / Genes Dominantes Tipo de estudo: Prognostic_studies Limite: Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2018 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Surdez / Fator de Transcrição Associado à Microftalmia / Estudos de Associação Genética / Genes Dominantes Tipo de estudo: Prognostic_studies Limite: Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2018 Tipo de documento: Article