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JP-HHT phenotype in Danish patients with SMAD4 mutations.

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第一作者： A M,Jelsig

第一单位： Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.;Institute of Clinical Research, University of Southern Denmark, Odense, Denmark.

作者： A M,Jelsig ^[1] ; P M,Tørring ^[2] ; A D,Kjeldsen ^[3] ; N,Qvist ^[4] ; A,Bojesen ^[5] ; U B,Jensen ^[6] ; M K,Andersen ^[7] ; A M,Gerdes ^[7] ; K,Brusgaard ^[1] ; L B,Ousager ^[1]

作者单位： Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.;Institute of Clinical Research, University of Southern Denmark, Odense, Denmark. ^[1] Department of Clinical Genetics, Odense University Hospital, Odense, Denmark. ^[2] Department of Otorhinolaryngology Head and Neck Surgery, HHT-Center, Odense, Denmark. ^[3] Department of Surgery, Odense University Hospital, Odense, Denmark. ^[4] Department of Clinical Genetics, Vejle Hospital, Lillebaelt Hospital, Vejle, Denmark.;Institute of Regional Health Research, University of Southern Denmark, Odense, Denmark. ^[5] Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.;Institute of Clinical Medicine, Aarhus University, Aarhus, Denmark. ^[6] Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Denmark. ^[7]

关键词 Osler-Rendu disease Smad4 protein Smad4-related juvenile polyposis epistaxis hereditary hemorrhagic telangiectasia juvenile polyposis syndrome melena