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Mechanisms of somatic transformation in inherited bone marrow failure syndromes

10 Dec 2021

Abstract excerpt

Inherited bone marrow failure syndromes (IBMFS) cause hematopoietic stem progenitor cell (HSPC) failure due to germline mutations. Germline mutations influence the number and fitness of HSPC by various mechanisms, for example, abnormal ribosome biogenesis in Shwachman-Diamond syndrome and Diamond-Blackfan anemia, unresolved DNA cross-links in Fanconi anemia, neutrophil maturation arrest in severe congenital...

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PMID: 34889377
DOI: 10.1182/hematology.2021000271

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