Article
Prognostic significance of mutation type and chromosome fragility in Fanconi anemia.
American journal of hematology - 1 Feb 2025
Ramírez María José, Pujol Roser, Minguillón Jordi, Bogliolo Massimo, Persico Ilaria, Cavero Debora, de la Cal Aurora, Río Paula, Navarro Susana, Casado José Antonio, Bailador Almudena, de la Fuente Antonio Sanchez, de Heredia Miguel López, Almazán Francisco, Antelo M Luisa, Argilés Bienvenida, Badell Isabel, Baragaño Marta, Beléndez Cristina, Bermúdez Mar, Bernués Marta, Buedo María Isabel, Carrasco Estela, Català Albert, Costa Dolors, Cuesta Isabel, Fernandez-Delgado Rafael, Fernández-Teijeiro Ana, Figuera Ángela, García Marta, Gondra Ainhoa, González Macarena, Muñiz Soledad González, Hernández-Rodríguez Ines, Ibañez Fátima, Kelleher Nicholas John, Lendínez Francisco, López Mónica, López-Almaraz Ricardo, Marchante Inmaculada, Mendoza Carmen, Nieto José, Ojeda Emilio, Payán-Pernía Salvador, Peláez Irene, de Soto Inmaculada Pérez, Portugal Raquel, Ramos-Arroyo María A, Regueiro Alexandra, Rodríguez Ana, Rosell Jordi, Saez Raquel, Sánchez José, Sánchez Martha, Senent MªLeonor, Tapia María, Trujillo-Quintero Juan Pablo, Vagace José Manuel, Verdú-Amorós Jaime, Verdugo Victória, Vidales Isabel, Villarreal Jasson, Díaz-de-Heredia Cristina, Sevilla Julián, Bueren Juan Antonio, Surrallés Jordi
Abstract excerpt
Fanconi anemia (FA) is a rare genetic disease characterized by high phenotypic and genotypic heterogeneity, and extreme chromosome fragility. To better understand the natural history of FA, identify genetic risk and prognostic factors, and develop novel therapeutic strategies, the Spanish Registry of Patients with FA collects data on clinical features, chromosome fragility, genetic subtypes, and DNA sequencing...
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