A novel missense variant of FBN1 gene in a Sardinian family with Marfan syndrome: a case report
Our results suggest that this variant is responsible for MS and it therefore should be included in genetic diagnoses and counselling discussion.
Authors
- Consolata Soddu (ORCID: https://orcid.org/0000-0002-4758-7801)
- Feipei Lai (ORCID: https://orcid.org/0000-0001-7147-8122)
- Monica Marica
- Salvatore Savasta (ORCID: https://orcid.org/0000-0001-9238-0749)
- Francesca Meloni (ORCID: https://orcid.org/0009-0005-6637-2637)
- Davide Martorana (ORCID: https://orcid.org/0000-0002-7572-7031)
- Marina Marsan
- Mattia Brutti
Institutions
- University of Parma (IT)
- University of Cagliari (IT)
- Ospedale Microcitemico (IT)
Publication Details
- Journal
- Frontiers in Pediatrics
- Published
- 2025-03-07
- DOI
- https://doi.org/10.3389/fped.2025.1549504
- Citations
- 1
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 1.82