Debora Cavero
- Biochemical and Molecular Research
- DNA Repair Mechanisms
- CRISPR and Genetic Engineering
- Chromosomal and Genetic Variations
- Computational Drug Discovery Methods
- Ubiquitin and proteasome pathways
Instituto de Investigación de Enfermedades Raras
2024
Centre for Biomedical Network Research on Rare Diseases
2024
Instituto de Salud Carlos III
2024
Universitat Autònoma de Barcelona
2024
Hospital de Sant Pau
2024
Institut de Recerca Sant Pau
2024
Abstract Fanconi anemia (FA) is a rare genetic disease characterized by high phenotypic and genotypic heterogeneity, extreme chromosome fragility. To better understand the natural history of FA, identify risk prognostic factors, develop novel therapeutic strategies, Spanish Registry Patients with FA collects data on clinical features, fragility, subtypes, DNA sequencing informed consent participating individuals. In this article, we describe evolution 227 patients followed up for to 30...