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De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain.
Ohba, Chihiro; Nabatame, Shin; Iijima, Yoshitaka; Nishiyama, Kiyomi; Tsurusaki, Yoshinori; Nakashima, Mitsuko; Miyake, Noriko; Tanaka, Fumiaki; Ozono, Keiichi; Saitsu, Hirotomo; Matsumoto, Naomichi.
Afiliação
  • Ohba C; 1] Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan [2] Department of Clinical Neurology and Stroke Medicine, Yokohama City University, Yokohama, Japan.
  • Nabatame S; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.
  • Iijima Y; Division of Pediatrics, Osaka Developmental Rehabilitation Center, Osaka, Japan.
  • Nishiyama K; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
  • Tsurusaki Y; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
  • Nakashima M; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
  • Miyake N; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
  • Tanaka F; Department of Clinical Neurology and Stroke Medicine, Yokohama City University, Yokohama, Japan.
  • Ozono K; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.
  • Saitsu H; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
  • Matsumoto N; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
J Hum Genet ; 59(5): 292-5, 2014 May.
Article em En | MEDLINE | ID: mdl-24621584
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encéfalo / Proteínas de Transporte / Síndrome de Rett / Ferro / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Female / Humans Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Japão
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encéfalo / Proteínas de Transporte / Síndrome de Rett / Ferro / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Female / Humans Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Japão