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Duplications in the G3 domain or switch II region in HRAS identified in patients with Costello syndrome.
Nagai, Koki; Niihori, Tetsuya; Okamoto, Nobuhiko; Kondo, Akane; Suga, Kenichi; Ohhira, Tomoko; Hayabuchi, Yasunobu; Homma, Yukako; Nakagawa, Ryuji; Ifuku, Toshinobu; Abe, Taiki; Mizuguchi, Takeshi; Matsumoto, Naomichi; Aoki, Yoko.
Afiliação
  • Nagai K; Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan.
  • Niihori T; Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan.
  • Okamoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.
  • Kondo A; Perinatal Medical Center, Shikoku Medical Center for Children and Adults, National Hospital Organization, Kagawa, Japan.
  • Suga K; Department of Pediatrics, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, Japan.
  • Ohhira T; Department of Pediatrics, Miyazaki Prefectural Miyazaki Hospital, Miyazaki, Japan.
  • Hayabuchi Y; Department of Pediatrics, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, Japan.
  • Homma Y; Department of Pediatrics, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, Japan.
  • Nakagawa R; Department of Pediatrics, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, Japan.
  • Ifuku T; Department of Pediatrics, Miyazaki Prefectural Miyazaki Hospital, Miyazaki, Japan.
  • Abe T; Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan.
  • Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Aoki Y; Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan.
Hum Mutat ; 43(1): 3-15, 2022 01.
Article em En | MEDLINE | ID: mdl-34618388

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Síndrome de Costello Idioma: En Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Japão

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Síndrome de Costello Idioma: En Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Japão