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A novel missense mutation in the SLC26A4 gene causes nonsyndromic hearing loss and enlarged vestibular aqueduct.
He, Xiaoguang; Peng, Qi; Li, Siping; Zhu, Pengyuan; Wu, Chunqiu; Rao, Chunbao; Chang, Jiang; Xie, Mingyu; Zhong, Baimao; Lu, Xiaomei.
Afiliação
  • He X; Department of Neonates, Children's Hospital of Dongguan, Dongguan, Guangdong, China; Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics, Dongguan, Guangdong, China.
  • Peng Q; Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics, Dongguan, Guangdong, China.
  • Li S; Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics, Dongguan, Guangdong, China.
  • Zhu P; CapitalBio Genomics Co., Ltd, Dongguan, Guangdong, China.
  • Wu C; CapitalBio Genomics Co., Ltd, Dongguan, Guangdong, China.
  • Rao C; Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics, Dongguan, Guangdong, China.
  • Chang J; Department of Otorhinolaryngology, Children's Hospital of Dongguan, Dongguan, Guangdong, China.
  • Xie M; Department of Neonates, Children's Hospital of Dongguan, Dongguan, Guangdong, China; Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics, Dongguan, Guangdong, China.
  • Zhong B; Department of Neonates, Children's Hospital of Dongguan, Dongguan, Guangdong, China; Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics, Dongguan, Guangdong, China.
  • Lu X; Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics, Dongguan, Guangdong, China. Electronic address: lxmdgeys@163.com.
Int J Pediatr Otorhinolaryngol ; 95: 104-108, 2017 Apr.
Article em En | MEDLINE | ID: mdl-28576516

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Proteínas de Membrana Transportadoras / Aqueduto Vestibular / Surdez / Perda Auditiva Neurossensorial Tipo de estudo: Etiology_studies Limite: Child / Female / Humans / Male Idioma: En Revista: Int J Pediatr Otorhinolaryngol Ano de publicação: 2017 Tipo de documento: Article País de afiliação: China

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Proteínas de Membrana Transportadoras / Aqueduto Vestibular / Surdez / Perda Auditiva Neurossensorial Tipo de estudo: Etiology_studies Limite: Child / Female / Humans / Male Idioma: En Revista: Int J Pediatr Otorhinolaryngol Ano de publicação: 2017 Tipo de documento: Article País de afiliação: China