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Biallelic mutations in SZT2 cause a discernible clinical entity with epilepsy, developmental delay, macrocephaly and a dysmorphic corpus callosum.
Nakamura, Yuji; Togawa, Yasuko; Okuno, Yusuke; Muramatsu, Hideki; Nakabayashi, Kazuhiko; Kuroki, Yoko; Ieda, Daisuke; Hori, Ikumi; Negishi, Yutaka; Togawa, Takao; Hattori, Ayako; Kojima, Seiji; Saitoh, Shinji.
Affiliation
  • Nakamura Y; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Japan.
  • Togawa Y; Department of Pediatrics, Toyohashi Municipal Hospital, Japan.
  • Okuno Y; Center for Advanced Medicine and Clinical Research, Nagoya University Hospital, Japan.
  • Muramatsu H; Department of Pediatrics, Nagoya University Graduate School of Medicine, Japan.
  • Nakabayashi K; Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Kuroki Y; Department of Genome Medicine, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Ieda D; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Japan.
  • Hori I; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Japan.
  • Negishi Y; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Japan.
  • Togawa T; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Japan.
  • Hattori A; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Japan.
  • Kojima S; Department of Pediatrics, Nagoya University Graduate School of Medicine, Japan.
  • Saitoh S; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Japan. Electronic address: ss11@med.nagoya-cu.ac.jp.
Brain Dev ; 40(2): 134-139, 2018 Feb.
Article in En | MEDLINE | ID: mdl-28893434
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Developmental Disabilities / Epilepsy / Megalencephaly / Agenesis of Corpus Callosum / Mutation / Nerve Tissue Proteins Type of study: Prognostic_studies Limits: Child, preschool / Female / Humans Language: En Journal: Brain Dev Year: 2018 Document type: Article Affiliation country: Country of publication:
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Developmental Disabilities / Epilepsy / Megalencephaly / Agenesis of Corpus Callosum / Mutation / Nerve Tissue Proteins Type of study: Prognostic_studies Limits: Child, preschool / Female / Humans Language: En Journal: Brain Dev Year: 2018 Document type: Article Affiliation country: Country of publication: