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Title:           Ending diagnostic odyssey by reanalysis of whole exome sequencing data: reclassification of suspected Fanconi anemia cases to dyskeratosis congenita and Diamond-Blackfan anemia
Subject:         Orphanet Journal of Rare Diseases, https://doi.org/10.1186/s13023-025-03928-5
Keywords:        WES Reanalysis; Rare Genetic Diseases; Fanconi Anemia; Diamond-Blackfan Anemia; Dyskeratosis Congenita; RPL5; TERT
Author:          Eudald Tejero 
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      Title: Ending diagnostic odyssey by reanalysis of whole exome sequencing data: reclassification of suspected Fanconi anemia cases to dyskeratosis congenita and Diamond-Blackfan anemia
      Children: 
       Item: 
        Title: Abstract 
        Children: 
         Item: 
          Title: Background 
         Item: 
          Title: Results 
         Item: 
          Title: Conclusions 
       Item: 
        Title: Introduction
       Item: 
        Title: Materials and methods
        Children: 
         Item: 
          Title: Patients
         Item: 
          Title: Standard exome sequencing and analysis
         Item: 
          Title: Sequencing data reanalysis
         Item: 
          Title: Telomere length and chromosome fragility
       Item: 
        Title: Results
       Item: 
        Title: Discussion
       Item: 
        Title: Conclusions
       Item: 
        Title: Acknowledgements
       Item: 
        Title: References
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