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A de novo TOP2B variant associated with global developmental delay and autism spectrum disorder.
Hiraide, Takuya; Watanabe, Seiji; Matsubayashi, Tomoko; Yanagi, Kumiko; Nakashima, Mitsuko; Ogata, Tsutomu; Saitsu, Hirotomo.
Afiliación
  • Hiraide T; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Watanabe S; Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Matsubayashi T; Department of Pediatrics, Izu Medical and Welfare Center, Izunokuni, Japan.
  • Yanagi K; Department of Pediatric Neurology, Shizuoka Children's Hospital, Shizuoka, Japan.
  • Nakashima M; Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan.
  • Ogata T; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Saitsu H; Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Mol Genet Genomic Med ; 8(3): e1145, 2020 03.
Article en En | MEDLINE | ID: mdl-31953910
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Discapacidades del Desarrollo / ADN-Topoisomerasas de Tipo II / Trastorno del Espectro Autista / Proteínas de Unión a Poli-ADP-Ribosa Tipo de estudio: Prognostic_studies / Risk_factors_studies Idioma: En Revista: Mol Genet Genomic Med Año: 2020 Tipo del documento: Article
Texto completo
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Discapacidades del Desarrollo / ADN-Topoisomerasas de Tipo II / Trastorno del Espectro Autista / Proteínas de Unión a Poli-ADP-Ribosa Tipo de estudio: Prognostic_studies / Risk_factors_studies Idioma: En Revista: Mol Genet Genomic Med Año: 2020 Tipo del documento: Article