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

Affiliations

• 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.