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A novel germline SMAD4 variant detected in a Japanese family with juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia.
Kananazawa, Yoshikazu; Yamada, Takeshi; Yamaguchi, Tatsuro; Saito, Yoshinobu; Kakinuma, Daisuke; Masuda, Yuka; Ando, Fumihiko; Ohashi, Ryuji; Eguchi, Hidetaka; Okazaki, Yasushi; Ishida, Hideyuki; Yoshida, Hiroshi.
Afiliação
  • Kananazawa Y; Department of Gastrointestinal and Hepato-Biliary-Pancreatic Surgery, Nippon Medical School, Tokyo, Japan.
  • Yamada T; Department of Gastrointestinal and Hepato-Biliary-Pancreatic Surgery, Nippon Medical School, Tokyo, Japan.
  • Yamaguchi T; Department of Genetic Medicine, Nippon Medical School, Tokyo, Japan.
  • Saito Y; Department of Genetic Medicine, Nippon Medical School, Tokyo, Japan.
  • Kakinuma D; Department of Clinical Genetics, Tokyo Metropolitan Cancer and Infectious Diseases Center, Bunkyo-ku, Tokyo, Japan.
  • Masuda Y; Department of Pulmonary Medicine and Oncology, Nippon Medical School, Tokyo, Japan.
  • Ando F; Department of Gastrointestinal and Hepato-Biliary-Pancreatic Surgery, Nippon Medical School, Tokyo, Japan.
  • Ohashi R; Department of Gastrointestinal and Hepato-Biliary-Pancreatic Surgery, Nippon Medical School, Tokyo, Japan.
  • Eguchi H; Department of Gastrointestinal and Hepato-Biliary-Pancreatic Surgery, Nippon Medical School, Tokyo, Japan.
  • Okazaki Y; Department of Diagnostic Pathology, Nippon Medical School Hospital, Tokyo, Japan.
  • Ishida H; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Bunkyo-ku, Tokyo, Japan.
  • Yoshida H; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Bunkyo-ku, Tokyo, Japan.
Jpn J Clin Oncol ; 53(3): 275-279, 2023 Mar 07.
Article em En | MEDLINE | ID: mdl-36546711

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Telangiectasia Hemorrágica Hereditária / Síndromes Neoplásicas Hereditárias / Polipose Intestinal Tipo de estudo: Qualitative_research Limite: Humans Idioma: En Revista: Jpn J Clin Oncol Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Japão

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Telangiectasia Hemorrágica Hereditária / Síndromes Neoplásicas Hereditárias / Polipose Intestinal Tipo de estudo: Qualitative_research Limite: Humans Idioma: En Revista: Jpn J Clin Oncol Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Japão