Variable clinical expression of a Belgian <i>TGFB3</i> founder variant suggests the presence of a genetic modifier.

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第一作者： Melanie H A M,Perik

第一单位： Cardiogenomics and Functional Genomics, Center for Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.

作者： Melanie H A M,Perik ^[1] ; Emmanuela,Govaerts ^[2] ; Steven,Laga ^[3] ; Inge,Goovaerts ^[4] ; Johan,Saenen ^[5] ; Emeline,Van Craenenbroeck ^[5] ; Josephina A N,Meester ^[1] ; Ilse,Luyckx ^[6] ; Inez,Rodrigus ^[3] ; Aline,Verstraeten ^[1] ; Lut,Van Laer ^[1] ; Bart L,Loeys ^[6]

作者单位： Cardiogenomics and Functional Genomics, Center for Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium. ^[1] Department of Cardiology, AZ Dimpna, Geel, Belgium. ^[2] Department of Cardiac Surgery, Antwerp University Hospital, Antwerp, Belgium. ^[3] Cardiogenomics and Functional Genomics, Center for Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.;Department of Cardiology, Antwerp University Hospital, Antwerp, Belgium. ^[4] Department of Cardiology, Antwerp University Hospital, Antwerp, Belgium. ^[5] Cardiogenomics and Functional Genomics, Center for Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.;Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands. ^[6]

关键词 Loeys–Dietz syndrome (LDS)TGFB3 connective tissue disorder founder genetic modifiers thoracic aortic aneurysm and dissection (TAAD)variable expressivity

DOI 10.3389/fgene.2023.1251675

PMID 37719708

发布时间 2023-09-19

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