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De novo HDAC8 mutation causes Rett-related disorder with distinctive facial features and multiple congenital anomalies.
Saikusa, Tomoko; Hara, Munetsugu; Iwama, Kazuhiro; Yuge, Kotaro; Ohba, Chihiro; Okada, Jun-Ichiro; Hisano, Tadashi; Yamashita, Yushiro; Okamoto, Nobuhiko; Saitsu, Hirotomo; Matsumoto, Naomichi; Matsuishi, Toyojiro.
Afiliação
  • Saikusa T; Department of Pediatrics and Child Health, Kurume University School of Medicine, 67 Asahi-machi, Kurume, Fukuoka 830-0011, Japan.
  • Hara M; Department of Pediatrics and Child Health, Kurume University School of Medicine, 67 Asahi-machi, Kurume, Fukuoka 830-0011, Japan.
  • Iwama K; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan.
  • Yuge K; Department of Pediatrics and Child Health, Kurume University School of Medicine, 67 Asahi-machi, Kurume, Fukuoka 830-0011, Japan.
  • Ohba C; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan.
  • Okada JI; Department of Neonatology, Medical Center for Maternal and Child Health, St. Mary's Hospital, Kurume, Fukuoka 830-8543, Japan.
  • Hisano T; Department of Neonatology, Medical Center for Maternal and Child Health, St. Mary's Hospital, Kurume, Fukuoka 830-8543, Japan.
  • Yamashita Y; Department of Pediatrics and Child Health, Kurume University School of Medicine, 67 Asahi-machi, Kurume, Fukuoka 830-0011, Japan.
  • Okamoto N; Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, 840 Shitudou-machi, Izumi, Osaka 594-0011, Japan.
  • Saitsu H; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan.
  • Matsumoto N; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan.
  • Matsuishi T; Department of Pediatrics, Research Center for Children, Research Center for Rett Syndrome, St. Mary's Hospital, Kurume, Fukuoka 830-8543, Japan. Electronic address: toyojiro@st-mary-med.or.jp.
Brain Dev ; 40(5): 406-409, 2018 May.
Article em En | MEDLINE | ID: mdl-29519750
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Repressoras / Síndrome de Rett / Histona Desacetilases Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Repressoras / Síndrome de Rett / Histona Desacetilases Idioma: En Ano de publicação: 2018 Tipo de documento: Article