Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource’s FBN1 variant curation expert panel

被引：0

作者：

A. Drackley ^{[1
]}

C. Somerville ^{[2
]}

P. Arnaud ^{[3
]}

L. M. Baudhuin ^{[4
]}

N. Hanna ^{[5
]}

M. L. Kluge ^{[3
]}

K. Kotzer ^{[4
]}

C. Boileau ^{[5
]}

L. Bronicki ^{[5
]}

B. Callewaert ^{[3
]}

A. Cecchi ^{[2
]}

H. Dietz ^{[6
]}

D. Guo ^{[7
]}

S. Harris ^{[8
]}

O. Jarinova ^{[9
]}

M. Lindsay ^{[10
]}

L. Little ^{[9
]}

B. Loeys ^{[11
]}

G. MacCarrick ^{[2
]}

J. Meester ^{[6
]}

D. Milewicz ^{[11
]}

T. Morisaki ^{[2
]}

H. Morisaki ^{[4
]}

D. Murdock ^{[12
]}

M. Renard ^{[10
]}

J. Richer ^{[4
]}

L. Robert ^{[12
]}

M. Ouzounian ^{[9
]}

L. Van Laer ^{[13
]}

J. De Backer ^{[13
]}

L. Muiño-Mosquera ^{[14
]}

机构：

[1] Ann & Robert H. Lurie Children’s Hospital of Chicago,Department of Pathology & Laboratory Medicine

[2] Children’s Hospital of Eastern Ontario,Genetics Diagnostic Laboratory

[3] Hôpital Bichat,Genetics Department

[4] Université Paris Cité,Department of Laboratory Medicine and Pathology

[5] European Reference Network for Rare Multisystemic Vascular Disease (VASCERN),Department of Pathology and Laboratory Medicine

[6] HTAD and MSA Rare Disease,Centre for Medical Genetics

[7] Working Group,Department of Biomolecular Medicine

[8] Mayo Clinic,Department of Internal Medicine, McGovern Medical School

[9] University of Ottawa,McKusick

[10] Ghent University Hospital,Nathans Department of Genetic Medicine

[11] Ghent University,Cardiovascular Research Center

[12] University of Texas Health Science Center at Houston,Centre of Medical Genetics

[13] Johns Hopkins University School of Medicine,Department of Medical Genetics

[14] Massachusetts General Hospital,Department of Medical Genetics

[15] Antwerp University Hospital and University of Antwerp,Department of Cardiology

[16] IMSUT Hospital,Division of Cardiac Surgery

[17] The Institute of Medical Science,Department of Cardiology

[18] The University of Tokyo,Department of Internal Medicine and Paediatrics

[19] Sakakibara Heart Institute,Division of Paediatric Cardiology, Department of Paediatrics

[20] Children’s Hospital of Eastern Ontario,undefined

[21] Guy’s and St Thomas’ Foundation Trust,undefined

[22] University of Toronto,undefined

[23] Ghent University Hospital,undefined

[24] Ghent University,undefined

[25] Ghent University Hospital,undefined

来源：

Genome Medicine | / 16卷 / 1期

关键词：

Marfan syndrome; ACMG-AMP guidelines; Variant interpretation; Variant curation;

D O I：

10.1186/s13073-024-01423-3

中图分类号：

学科分类号：

摘要：

引用

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