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Shwachman-Diamond syndrome: implications for understanding the molecular basis of leukaemia
1Division of Haematology/Oncology, Marrow Failure and Myelodysplasia Program,Cell Biology Program, Research Institute The Hospital for Sick Children and the University of Toronto, Toronto, Ontario, Canada. yigal.dror@sickkids.ca
Abstract:
Inherited bone marrow failure syndromes provide extremely useful genetic models for understanding leukaemogenesis because the initial genetic defect can be identified and the risk of leukaemia is very high. Shwachman-Diamond syndrome is one of the most common inherited bone marrow failure syndromes and an example of such a model. Here, I describe the malignant features of Shwachman-Diamond syndrome and discuss the potential molecular mechanisms that can lead to leukaemia.
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