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Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome.
Oda, Yoichiro; Uchiyama, Yuri; Motomura, Ai; Fujita, Atsushi; Azuma, Yoshiteru; Harita, Yutaka; Mizuguchi, Takeshi; Yanagi, Kumiko; Ogata, Hiroko; Hata, Kenichiro; Kaname, Tadashi; Matsubara, Yoichi; Wakui, Keiko; Matsumoto, Naomichi.
Afiliação
  • Oda Y; Department of Pediatrics, Chigasaki Municipal Hospital, Chigasaki, Japan.
  • Uchiyama Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Motomura A; Department of Oncology, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Fujita A; Department of Pediatrics, Chigasaki Municipal Hospital, Chigasaki, Japan.
  • Azuma Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Harita Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Mizuguchi T; Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
  • Yanagi K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Ogata H; Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan.
  • Hata K; Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Kaname T; Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Matsubara Y; Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan.
  • Wakui K; National Research Institute for Child Health and Development, Tokyo, Japan.
  • Matsumoto N; Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.
J Hum Genet ; 64(10): 1005-1014, 2019 Oct.
Article em En | MEDLINE | ID: mdl-31311986

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Espasmos Infantis / Transtornos Cromossômicos / Duplicação Cromossômica / Fatores de Crescimento de Fibroblastos / Transtornos do Neurodesenvolvimento Tipo de estudo: Etiology_studies / Risk_factors_studies Limite: Adolescent / Female / Humans / Infant Idioma: En Ano de publicação: 2019 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Espasmos Infantis / Transtornos Cromossômicos / Duplicação Cromossômica / Fatores de Crescimento de Fibroblastos / Transtornos do Neurodesenvolvimento Tipo de estudo: Etiology_studies / Risk_factors_studies Limite: Adolescent / Female / Humans / Infant Idioma: En Ano de publicação: 2019 Tipo de documento: Article