A large French family with TGFBR2 pathogenic variant: illustration of variability
Across four generations, improved diagnosis, prophylactic surgery, and surgical techniques were associated with reduced dissection rates and increased survival, despite marked intra-familial variability in aortic disease severity among carriers of the same TGFBR2 pathogenic variant."
Authors
- Guillaume Jondeau (ORCID: https://orcid.org/0000-0002-0101-2076)
- Olivier Milleron (ORCID: https://orcid.org/0000-0002-6517-0559)
- Skerdi Haviari
- Arienne Mirmiran (ORCID: https://orcid.org/0000-0002-9513-7506)
- Nadine Hanna (ORCID: https://orcid.org/0000-0001-5434-3111)
- Cathérine Boileau (ORCID: https://orcid.org/0000-0002-0371-7539)
- Fatouma Touré (ORCID: https://orcid.org/0000-0002-8246-4022)
- Pauline Arnaud (ORCID: https://orcid.org/0000-0001-9727-1592)
- Sabrine Jadoui
- Ludivine Eliahou (ORCID: https://orcid.org/0000-0002-2995-804X)
- Florence Arnoult
Institutions
- Inserm (FR)
- Université Sorbonne Nouvelle (FR)
- Université Paris Cité (FR)
- Sorbonne Université (FR)
- Université Sorbonne Paris Nord (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- Laboratoire National de Référence (MA)
- Laboratoire de Recherche Vasculaire Translationnelle (FR)
- Hôpital Bichat-Claude-Bernard (FR)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-11-27
- DOI
- https://doi.org/10.1186/s13023-025-04124-1
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 0.00