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Destination: 1 Children: Item: Title: Introduction Destination: 1 Item: Title: Methods Destination: 1 Children: Item: Title: Study design and population Destination: 1 Item: Title: Methodology Destination: 1 Children: Item: Title: Genetic study of biallelic (AAGGG)exp in RFC1 Destination: 1 Item: Title: Rydel-Seiffer fork Destination: 1 Item: Title: Aetiology study Destination: 1 Item: Title: QoL impact Destination: 1 Item: Title: Ethical and legal aspects Destination: 1 Item: Title: Statistical analysis Destination: 1 Item: Title: Results Destination: 1 Children: Item: Title: Patient clinical and functional characteristics Destination: 1 Item: Title: Genetic and Rydel-Seiffer fork studies Destination: 1 Item: Title: Aetiology study Destination: 1 Item: Title: QoL study Destination: 1 Item: Title: Discussion Destination: 1 Item: Title: Conclusion Destination: 1 Item: Title: Authors’ contributions Destination: 1 Item: Title: Funding Destination: 1 Item: Title: Conflicts of interests 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Bronconeumología, 60 (2024) 468-474. doi:10.1016/j.arbres.2024.04.028 The Authors journal Archivos de Bronconeumología © 2024 The Authors. 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