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A novel STXBP1 mutation causes typical Rett syndrome in a Japanese girl.
Yuge, Kotaro; Iwama, Kazuhiro; Yonee, Chihiro; Matsufuji, Mayumi; Sano, Nozomi; Saikusa, Tomoko; Yae, Yukako; Yamashita, Yushiro; Mizuguchi, Takeshi; Matsumoto, Naomichi; Matsuishi, Toyojiro.
Afiliação
  • Yuge K; Department of Pediatrics and Child Health, Kurume University School of Medicine, Fukuoka, Japan.
  • Iwama K; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Kanagawa, Japan.
  • Yonee C; Department of Pediatric Neurology, MinamiKyushu Hospital, Kagoshima, Japan.
  • Matsufuji M; Department of Pediatric Neurology, MinamiKyushu Hospital, Kagoshima, Japan.
  • Sano N; Department of Pediatric Neurology, MinamiKyushu Hospital, Kagoshima, Japan.
  • Saikusa T; Department of Pediatrics and Child Health, Kurume University School of Medicine, Fukuoka, Japan.
  • Yae Y; Department of Pediatrics and Child Health, Kurume University School of Medicine, Fukuoka, Japan.
  • Yamashita Y; Department of Pediatrics and Child Health, Kurume University School of Medicine, Fukuoka, Japan.
  • Mizuguchi T; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Kanagawa, Japan.
  • Matsumoto N; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Kanagawa, Japan.
  • Matsuishi T; Research Center for Children and Research Center for Rett syndrome, St. Mary's Hospital, Fukuoka, Japan. Electronic address: toyojiro@st-mary-med.or.jp.
Brain Dev ; 40(6): 493-497, 2018 Jun.
Article em En | MEDLINE | ID: mdl-29544889
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Rett / Mutação da Fase de Leitura / Proteínas Munc18 Tipo de estudo: Diagnostic_studies / Etiology_studies Limite: Child, preschool / Female / Humans País/Região como assunto: Asia Idioma: En Revista: Brain Dev Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Rett / Mutação da Fase de Leitura / Proteínas Munc18 Tipo de estudo: Diagnostic_studies / Etiology_studies Limite: Child, preschool / Female / Humans País/Região como assunto: Asia Idioma: En Revista: Brain Dev Ano de publicação: 2018 Tipo de documento: Article