Elucidating the Molecular Basis in a Cohort of Patients With Combined Bleeding Tendencies and Joint Hypermobility Manifestations
The results underscore the need for systematic assessment of JH in patients with bleeding and normal haemostatic tests, as well as for bleeding evaluation in those showing HDCT signs. WES proved valuable in identifying genetic contributors to these complex phenotypes, supporting a multidisciplinary approach to achieve accurate diagnosis and improved patient care.
Authors
- Lorena Ramírez (ORCID: https://orcid.org/0000-0003-1792-7390)
- Francisco Vidal (ORCID: https://orcid.org/0000-0001-8089-4945)
- Judith Sánchez‐Raya (ORCID: https://orcid.org/0000-0002-9356-7211)
- Laura Martín-Fernández (ORCID: https://orcid.org/0000-0002-8909-508X)
- Irene Corrales (ORCID: https://orcid.org/0000-0002-0647-0340)
- Natàlia Comes
- Carlos Hobeich
- Carme Altisent
- Nina Borràs (ORCID: https://orcid.org/0000-0001-7909-9995)
- Iris Garcia‐Martínez (ORCID: https://orcid.org/0000-0001-6656-3322)
- Perla Bandini (ORCID: https://orcid.org/0000-0002-6002-7454)
- Marta Martorell
Institutions
- Hebron University (PS)
- Instituto de Salud Carlos III (ES)
- Centro de Investigación en Red en Enfermedades Cardiovasculares (ES)
- Vall d'Hebron Institut de Recerca (ES)
- Feed Control (Norway) (NO)
- Centro de Investigación Biomédica en Red (ES)
- Vall d'Hebron Hospital Universitari (ES)
- Banc de Sang i Teixits (ES)
- Universitat de Barcelona (ES)
Publication Details
- Journal
- Haemophilia
- Published
- 2025-11-03
- DOI
- https://doi.org/10.1111/hae.70160
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Ministerio de Economía y Competitividad
- Swedish Orphan Biovitrum
- Centro de Investigación Biomédica en Red Enfermedades Cardiovasculares
- Instituto de Salud Carlos III
- European Regional Development Fund