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A novel homozygous disruptive PRF1 variant (K285Sfs*4) causes very early-onset of familial hemophagocytic lymphohystiocytosis type 2

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F. Saettini, I. Castelli, M. Provenzi, G. Fazio, M. Quadri, G. Cazzaniga, S. Sala, F. Dell’Acqua, E. Sieni, M. L. Coniglio, L. Pezzoli, M. Iascone, F. Vendemini, A. C. Balduzzi,… Click to show full abstract

F. Saettini, I. Castelli, M. Provenzi, G. Fazio, M. Quadri, G. Cazzaniga, S. Sala, F. Dell’Acqua, E. Sieni, M. L. Coniglio, L. Pezzoli, M. Iascone, F. Vendemini, A. C. Balduzzi, A. Biondi, C. Rizzari , and S. Bonanomi Pediatric Hematology-Oncology Unit, Department of Pediatrics, University of Milano-Bicocca, MBBM Foundation, Monza, Italy; Pediatric Unit, Hospital Papa Giovanni XXIII, Bergamo, Italy; Centro Ricerca Tettamanti, University of Milan Bicocca, Monza, Italy; Department of Medicine and Surgery, University of Milan Bicocca, Monza, Italy; Department of Paediatric Oncohematology, Meyer Children's University Hospital, Florence, Italy; Molecular Genetics Laboratory, USSD LGM, Papa Giovanni XXIII Hospital, Bergamo, Italy

Keywords: novel homozygous; hematology; monza italy; homozygous disruptive; university; oncology

Journal Title: Pediatric Hematology and Oncology
Year Published: 2020

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