The frequency of rare and monogenic diseases in pediatric organ transplant recipients in Italy.
Tiziana VaisittiDaniela PeritorePaola MagistroniAndrea RicciLetizia LombardiniEnrico GringeriSilvia CatalanoMarco SpadaMarco SciveresAngelo Di GiorgioGiuseppe LimongelliMarisa VarrentiGino GerosaAmedeo TerziCarlo Pace NapoleoneAntonio AmodeoLuca RagniLuca Dello StrologoElisa BenettiIris FontanaSara TestaLicia PeruzziAdele MitrottiSerena AbbateGiorgia ComaiEliana GottiMarco SchiavonMassimo BoffiniDaniele De AngelisAlessandro BertaniDomenico PinelliMassimo TorreCamilla PoggiSilvia DeaglioMassimo CardilloAntonio Amorosonull nullPublished in: Orphanet journal of rare diseases (2021)
This work represents the first national survey analyzing the main genetic causes and frequencies of rare and/or monogenic diseases leading to organ failure and requiring transplantation both in adults and children.