Gaining Insights into Inherited Bleeding Disorders of Complex Etiology in Pediatric Patients: Whole-Exome Sequencing as First-Line Investigation Tool.
Perla BandiniNina BorràsRuben BerruecoSusanna GassiotLaura Martin-FernandezEdurne SarrateNatàlia ComesLorena RamírezCarlos HobeichFrancisco VidalIrene CorralesPublished in: Thrombosis and haemostasis (2023)
This study demonstrated the high potential of WES in identifying rare molecular defects causing IBD in pediatric patients, improving their management, prognosis, and treatment, particularly for patients at risk of malignancy and/or bleeding due to invasive procedures.