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TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis.
Yokoi, Setsuri; Ishihara, Naoko; Miya, Fuyuki; Tsutsumi, Makiko; Yanagihara, Itaru; Fujita, Naoko; Yamamoto, Hiroyuki; Kato, Mitsuhiro; Okamoto, Nobuhiko; Tsunoda, Tatsuhiko; Yamasaki, Mami; Kanemura, Yonehiro; Kosaki, Kenjiro; Kojima, Seiji; Saitoh, Shinji; Kurahashi, Hiroki; Natsume, Jun.
Affiliation
  • Yokoi S; Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan.
  • Ishihara N; Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
  • Miya F; Department of Pediatrics, Fujita Health University School of Medicine, Toyoake, Japan.
  • Tsutsumi M; Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
  • Yanagihara I; Laboratory for Medical Science Mathematics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
  • Fujita N; Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan.
  • Yamamoto H; Department of Developmental Medicine, Research Institute, Osaka Medical Center for Maternal and Child Health, Izumi, Japan.
  • Kato M; Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan.
  • Okamoto N; Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
  • Tsunoda T; Department of Pediatrics, Yamagata University Faculty of Medicine, Yamagata, Japan.
  • Yamasaki M; Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.
  • Kanemura Y; Laboratory for Medical Science Mathematics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
  • Kosaki K; Department of Neurosurgery, Takatsuki General Hospital, Osaka, Japan.
  • Kojima S; Division of Regenerative Medicine, Institute for Clinical Research, Osaka National Hospital, National Hospital Organization, Osaka, Japan.
  • Saitoh S; Department of Neurosurgery, Osaka National Hospital, National Hospital Organization, Osaka, Japan.
  • Kurahashi H; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
  • Natsume J; Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Sci Rep ; 5: 15165, 2015 Oct 23.
Article in En | MEDLINE | ID: mdl-26493046

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Tubulin / Malformations of Cortical Development / Hydranencephaly / Mutation Type of study: Prognostic_studies Limits: Child, preschool / Female / Humans / Male Language: En Journal: Sci Rep Year: 2015 Document type: Article

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Tubulin / Malformations of Cortical Development / Hydranencephaly / Mutation Type of study: Prognostic_studies Limits: Child, preschool / Female / Humans / Male Language: En Journal: Sci Rep Year: 2015 Document type: Article