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Emerging bone marrow failure syndromes- new pieces to an unsolved puzzle

6 Apr 2023

Abstract excerpt

Inherited bone marrow failure (BMF) syndromes are genetically diverse — more than 100 genes have been associated with those syndromes and the list is rapidly expanding. Risk assessment and genetic counseling of patients with recently discovered BMF syndromes is inherently difficult as disease mechanisms, penetrance, genotype-phenotype associations, phenotypic heterogeneity, risk of hematologic malignancies and...

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PMID: 37091189
DOI: 10.3389/fonc.2023.1128533

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