Thoracic Aortic Disease in Patients With Heterozygous Variants Outside the Central Region of <i>FBN2</i>
Our results suggest that heterozygous <i>FBN2</i> variants outside the central region predispose individuals to thoracic aortic disease and are less associated with the typical clinical presentation of congenital contractural arachnodactyly than pathogenic variants in the <i>FBN2</i> central region.
Authors
- H. Gregg Schuler
- Yskert Von Kodolitsch (ORCID: https://orcid.org/0000-0001-5096-8421)
- Christian Detter
- Christian Kubisch (ORCID: https://orcid.org/0000-0003-4220-0978)
- Marco Sachse
- Thomas S. Mir (ORCID: https://orcid.org/0000-0002-8337-5187)
- Katalin Szöcs
- Georg Rosenberger (ORCID: https://orcid.org/0000-0003-3625-3109)
- Meike Rybczynski (ORCID: https://orcid.org/0000-0002-6489-6016)
- Peter Frommolt (ORCID: https://orcid.org/0000-0002-1966-8014)
- V. Stark (ORCID: https://orcid.org/0000-0003-3978-1804)
- J. Olfe (ORCID: https://orcid.org/0000-0002-4449-7739)
- Kerstin Kutsche
- Hermann Reichenspurner
- Till Demal (ORCID: https://orcid.org/0000-0001-8978-9914)
- Celia Metzlaff
Institutions
- Universität Hamburg (DE)
- Heidelberg University (DE)
- University Hospital Heidelberg (DE)
- Heart Foundation (US)
- University Medical Center Hamburg-Eppendorf (DE)
- German Centre for Cardiovascular Research (DE)
- University Clinical Center Tuzla (BA)
- Deutsches Herzzentrum München (DE)
- University Medical Centre Mannheim (DE)
Publication Details
- Journal
- Circulation Genomic and Precision Medicine
- Published
- 2025-05-23
- DOI
- https://doi.org/10.1161/circgen.124.004672
- Citations
- 2
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 3.63