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Further characterization of CAPOS/CAOS syndrome with the Glu818Lys mutation in the ATP1A3 gene: A case report.
Hayashida, Takuya; Saito, Yoshiaki; Ishii, Atsushi; Hirose, Shinichi; Hiraiwa, Rika; Maegaki, Yoshihiro; Ohno, Kousaku.
Afiliação
  • Hayashida T; Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan.
  • Saito Y; Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan. Electronic address: saitoyo@med.tottori-u.ac.jp.
  • Ishii A; Department of Pediatrics, School of Medicine, Fukuoka University, Fukuoka, Japan.
  • Hirose S; Department of Pediatrics, School of Medicine, Fukuoka University, Fukuoka, Japan.
  • Hiraiwa R; Western Shimane Medical and Welfare Center for the Disabled, Gohtsu, Japan.
  • Maegaki Y; Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan.
  • Ohno K; Sanin Rosai Hospital, Yonago, Japan.
Brain Dev ; 40(7): 576-581, 2018 Aug.
Article em En | MEDLINE | ID: mdl-29625811

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deformidades Congênitas do Pé / Ataxia Cerebelar / Atrofia Óptica / Reflexo Anormal / ATPase Trocadora de Sódio-Potássio / Perda Auditiva Neurossensorial / Mutação Limite: Adult / Female / Humans Idioma: En Revista: Brain Dev Ano de publicação: 2018 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deformidades Congênitas do Pé / Ataxia Cerebelar / Atrofia Óptica / Reflexo Anormal / ATPase Trocadora de Sódio-Potássio / Perda Auditiva Neurossensorial / Mutação Limite: Adult / Female / Humans Idioma: En Revista: Brain Dev Ano de publicação: 2018 Tipo de documento: Article