Article
Elucidating the Molecular Basis in a Cohort of Patients With Combined Bleeding Tendencies and Joint Hypermobility Manifestations.
Haemophilia : the official journal of the World Federation of Hemophilia - 1 Jan 2026
Bandini Perla, Borràs Nina, Altisent Carme, Sánchez-Raya Judith, Martin-Fernandez Laura, Garcia-Martínez Iris, Comes Natàlia, Ramírez Lorena, Martorell Marta, Hobeich Carlos, Vidal Francisco, Corrales Irene
Abstract excerpt
BACKGROUND: In patients with unexplained bleeding and normal haemostatic parameters, heritable disorders of connective tissue (HDCT) may be an underlying cause due to vascular fragility, as observed in Ehlers-Danlos syndrome (EDS) or Marfan syndrome (MS). This study aims to investigate the molecular profile of patients with joint hypermobility (JH) and unexplained bleeding and to establish genotype-phenotype...
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