The frequency of rare and monogenic diseases in pediatric organ transplant recipients in Italy

Abstract Background Rare diseases are chronic and life-threatening disorders affecting < 1 person every 2,000. For most of them, clinical symptoms and signs can be observed at birth or childhood. Approximately 80% of all rare diseases have a genetic background and most of them are monogenic condi...

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Main Authors: Tiziana Vaisitti, Daniela Peritore, Paola Magistroni, Andrea Ricci, Letizia Lombardini, Enrico Gringeri, Silvia Catalano, Marco Spada, Marco Sciveres, Angelo Di Giorgio, Giuseppe Limongelli, Marisa Varrenti, Gino Gerosa, Amedeo Terzi, Carlo Pace Napoleone, Antonio Amodeo, Luca Ragni, Luca dello Strologo, Elisa Benetti, Iris Fontana, Sara Testa, Licia Peruzzi, Adele Mitrotti, Serena Abbate, Giorgia Comai, Eliana Gotti, Marco Schiavon, Massimo Boffini, Daniele De Angelis, Alessandro Bertani, Domenico Pinelli, Massimo Torre, Camilla Poggi, Silvia Deaglio, Massimo Cardillo, Antonio Amoroso, Italian Pediatric Transplant Centers
Format: Article
Language:English
Published: BMC 2021-09-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Online Access:https://doi.org/10.1186/s13023-021-02013-x