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SLC26A4 p.Thr410Met homozygous mutation in a patient with a cystic cochlea and an enlarged vestibular aqueduct showing characteristic features of incomplete partition type I and II.
Yamazaki, Hiroshi; Naito, Yasushi; Moroto, Saburo; Tamaya, Rinko; Yamazaki, Tomoko; Fujiwara, Keizo; Ito, Juichi.
Afiliação
  • Yamazaki H; Department of Otolaryngology, Head and Neck Surgery, Graduate School of Medicine, Kyoto University, Kyoto, Japan. Electronic address: h_yamazaki@ent.kuhp.kyoto-u.ac.jp.
  • Naito Y; Department of Otolaryngology, Kobe City Medical Center General Hospital, Kobe, Japan.
  • Moroto S; Department of Otolaryngology, Kobe City Medical Center General Hospital, Kobe, Japan.
  • Tamaya R; Department of Otolaryngology, Kobe City Medical Center General Hospital, Kobe, Japan.
  • Yamazaki T; Department of Otolaryngology, Kobe City Medical Center General Hospital, Kobe, Japan.
  • Fujiwara K; Department of Otolaryngology, Kobe City Medical Center General Hospital, Kobe, Japan.
  • Ito J; Department of Otolaryngology, Head and Neck Surgery, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Int J Pediatr Otorhinolaryngol ; 78(12): 2322-6, 2014 Dec.
Article em En | MEDLINE | ID: mdl-25468468
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Membrana Transportadoras / Aqueduto Vestibular / Cóclea / Homozigoto / Mutação Idioma: En Ano de publicação: 2014 Tipo de documento: Article
Texto completo
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XML
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Membrana Transportadoras / Aqueduto Vestibular / Cóclea / Homozigoto / Mutação Idioma: En Ano de publicação: 2014 Tipo de documento: Article