首页> American journal of medical genetics. Part A> Reclassification of an FBN1 variant emphasizes the importance of segregation analysis, information sharing, and multidisciplinary teamwork in understanding genetic variants in health and disease.

Reclassification of an FBN1 variant emphasizes the importance of segregation analysis, information sharing, and multidisciplinary teamwork in understanding genetic variants in health and disease.

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第一作者： Dorte L,Lildballe

第一单位： Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.;Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.

作者： Dorte L,Lildballe ^[1] ; Sara,Markholt ^[2] ; Christina Daugaard,Lyngholm ^[2] ; Qin,Hao ^[3] ; Christina,Fagerberg ^[3] ; Dorte Guldbrand,Nielsen ^[4] ; Julius Hannibal,Svensmark ^[5] ; Birgitte Rode,Diness ^[6] ; Pernille A,Gregersen ^[7]

作者单位： Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.;Department of Clinical Medicine, Aarhus University, Aarhus, Denmark. ^[1] Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark. ^[2] Department of Clinical Genetics, Odense University Hospital, Odense, Denmark. ^[3] Department of Cardiology, Aarhus University Hospital, Aarhus, Denmark. ^[4] Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark. ^[5] Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.;Department of Clinical Medicine, Copenhagen University, Copenhagen, Denmark. ^[6] Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.;Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.;Centre for Rare Diseases, Department of Pediatrics and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark. ^[7]

关键词 FBN1 Marfan syndrome clinical genetics fibrillin‐1 genetic variant classification