From Bernard-Soulier syndrome to sitosterolemia: the role of genetic analysis in bleeding diathesis

Abstract Bleeding diathesis’ diagnosis can be challenging due to the high number of disorders with hemorrhagic symptomatology. Sitosterolemia is a rare disease characterized by increased sterols plasma levels and cardiovascular, cutaneous, articular, and hematological manifestations, including anemi...

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Bibliographic Details

Published in:	Thrombosis Journal
Main Authors:	Cristina Marrero-Cepeda, Gloria García-Donas, Francisco Javier Rodríguez-Martorell, Ramiro Núñez-Vázquez, Concepción Prats-Martín, José Antonio Pérez-Simón, María Teresa Vargas
Format:	Article
Language:	English
Published:	BMC 2025-09-01
Subjects:	Sitosterolemia Bernard-Soulier syndrome Bleeding diathesis ABCG8 ABCG5 Macrothrombocytopenia
Online Access:	https://doi.org/10.1186/s12959-025-00759-z