Unraveling a novel FBN1 variant in Marfan syndrome with dilated aortic root manifestation
The identification of this novel variant highlights the importance of the FBN1 gene in MFS, especially its cardiovascular manifestations. Early intervention can improve patient outcomes, while ongoing research holds promise for further advancements in treatment for Marfan syndrome.
Authors
- Amir Askarinejad (ORCID: https://orcid.org/0000-0003-2803-079X)
- Golnaz Houshmand (ORCID: https://orcid.org/0000-0001-5026-5101)
- Samira Kalayinia (ORCID: https://orcid.org/0000-0002-3499-044X)
- Mahdieh Soveizi (ORCID: https://orcid.org/0000-0002-8665-2004)
- Saranaz Seyed AliAkbar
- Hojjat Mortezaeian (ORCID: https://orcid.org/0000-0001-6248-8185)
- Majid Maleki (ORCID: https://orcid.org/0000-0002-2821-7135)
- Amirreza Sabahizadeh
- Amin Elahifar (ORCID: https://orcid.org/0000-0003-3079-4035)
Institutions
- Shaheed Rajaei Cardiovascular Medical and Research Center (IR)
Publication Details
- Journal
- BMC Medical Genomics
- Published
- 2025-03-07
- DOI
- https://doi.org/10.1186/s12920-025-02111-w
- Citations
- 1
- Primary Topic
- Aortic Disease and Treatment Approaches
- Type
- article
- Field-Weighted Citation Impact
- 1.52