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A novel CUL4B splice site variant in a young male exhibiting less pronounced features.
Nakamura, Yuji; Okuno, Yusuke; Muramatsu, Hideki; Kawai, Tomoko; Satou, Kazuhito; Ieda, Daisuke; Hori, Ikumi; Ohashi, Kei; Negishi, Yutaka; Hattori, Ayako; Takahashi, Yoshiyuki; Kojima, Seiji; Saitoh, Shinji.
Afiliación
  • Nakamura Y; 1Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
  • Okuno Y; 2Center for Advanced Medicine and Clinical Research, Nagoya University Hospital, Nagoya, Japan.
  • Muramatsu H; 3Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
  • Kawai T; 4Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Satou K; 5Department of Genome Medicine, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Ieda D; 1Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
  • Hori I; 1Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
  • Ohashi K; 1Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
  • Negishi Y; 1Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
  • Hattori A; 1Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
  • Takahashi Y; 3Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
  • Kojima S; 3Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
  • Saitoh S; 1Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
Hum Genome Var ; 6: 43, 2019.
Article en En | MEDLINE | ID: mdl-31645981
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Texto completo: 1 Banco de datos: MEDLINE Idioma: En Revista: Hum Genome Var Año: 2019 Tipo del documento: Article País de afiliación: Japón
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Idioma: En Revista: Hum Genome Var Año: 2019 Tipo del documento: Article País de afiliación: Japón