Somatic reversion events point towards RPL4 as a novel disease gene in a condition resembling Diamond-Blackfan anemia

• Marjolijn C. J. Jongmans,
• Illja J. Diets,
• Paola Quarello,
• Emanuela Garelli,
• Roland P. Kuiper,
• Rolph Pfundt

Affiliations

Marjolijn C. J. Jongmans

Department of Human Genetics, Radboud university medical center and Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands;Department of Medical Genetics, University Medical Center Utrecht, the Netherlands;Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands

Illja J. Diets

Department of Human Genetics, Radboud university medical center and Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands

Paola Quarello

Paediatric Onco-Haematology, Stem Cell Transplantation and Cellular Therapy Division, Regina Margherita Children’s Hospital, Torino, Italy

Emanuela Garelli

Department of Public Health and Paediatric Sciences, University of Torino, Italy

Roland P. Kuiper

Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands

Rolph Pfundt

Department of Human Genetics, Radboud university medical center and Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands