Marfan syndrome resulting from a rare pathogenic FBN1 variant, ascertained through a proband with IgG4 ‐related arteriopathy-Reference-Cited by-同舟云学术

Marfan syndrome resulting from a rare pathogenic FBN1 variant, ascertained through a proband with IgG4 ‐related arteriopathy

Published:2021-04-20 Issue:7 Volume:185 Page:2180-2189
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Haan Eric A.¹^ORCID,Chamalaun Francois H.²,Chamuleau Steven A. J.³,Arnolda Leonard F.⁴,Slavotinek John P.⁵,Wise Nadia C.⁶,Gunawardane Dimuth N.⁷,Schwarze Ulrike⁸,Byers Peter H.⁹,Gabb Genevieve M.¹⁰¹¹

Affiliation:

1. Adult Genetics Unit, Royal Adelaide Hospital, Adelaide and Faculty of Health and Medical Sciences University of Adelaide Adelaide South Australia Australia

2. Flagstaff Hill Adelaide South Australia Australia

3. Department of Cardiology Amsterdam University Medical Centers Amsterdam The Netherlands

4. Medical School, Australian National University, Australian Capital Territory Canberra Australian Capital Territory Australia

5. Department of Radiology Flinders Medical Center and Repatriation Health Precinct, SA Medical Imaging, SA Health and College of Medicine and Public Health, Flinders University Bedford Park South Australia Australia

6. Vascular Surgery, Division of Surgery, Flinders Medical Center and College of Medicine and Public Health, Flinders University Bedford Park South Australia Australia

7. Department of Anatomical Pathology/SA Pathology, Flinders Medical Center and Department of Anatomical Pathology/SA Pathology Royal Adelaide Hospital Adelaide South Australia Australia

8. Department of Laboratory Medicine and Pathology University of Washington Seattle Washington USA

9. Department of Medicine (Medical Genetics) University of Washington Seattle Washington USA

10. Cardiac and Critical Care, Division of Medicine Flinders Medical Center, College of Medicine and Public Health, Flinders University Bedford Park South Australia Australia

11. Acute and Urgent Care, Royal Adelaide Hospital and Faculty of Health and Medical Sciences, University of Adelaide Adelaide South Australia Australia

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62218

Reference57 articles.

1. Relation of aortic root dilatation and age in Marfan's syndrome

2. Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD)

3. Association of modifiers and other genetic factors explain Marfan syndrome clinical variability

4. Aneurysms of Medium-Sized Arteries in Marfan Syndrome

5. Variability in gene-based knowledge impacts variant classification: an analysis of FBN1 missense variants in ClinVar