Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation

Garelli E1, Quarello P2, Giorgio E3, Carando A1, Menegatti E4,5, Mancini C3, Di Gregorio E4, Crescenzio N1, Palumbo O6, Carella M6, Dimartino P7, Pippucci T8, Dianzani I9, Ramenghi U1, Brusco A3,4

2019 Jun;185(5):994-998. doi: 10.1111/bjh.15688. Epub 2018 Nov 20

Author information

1: Department of Public Health and Paediatric Sciences, University of Turin, Turin, Italy.
2: Paediatric Onco-Haematology, Stem Cell Transplantation and Cellular Therapy Division, Regina Margherita Children's Hospital, Turin, Italy.
3: Department of Medical Sciences, University of Turin, Turin, Italy.
4: Medical Genetics Unit, "Città della Salute e della Scienza" Hospital, Turin, Italy.
5: Department of Clinical and Biological Sciences, University of Turin, Turin, Italy.
6: Division of Medical Genetics, IRCCS "Casa Sollievo della Sofferenza", San Giovanni Rotondo, Italy.
7: Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.
8: Medical Genetics Unit, Polyclinic Sant'Orsola-Malpighi University Hospital, Bologna, Italy.
9: Department of Health Sciences, University of Eastern Piedmont, Novara, Italy.