Transcriptional contingency in the early hematopoiesis of inherited bone marrow failure syndromes
The inherited bone marrow failure syndromes (IBMFS) are a group of heterogeneous genetic diseases caused by germline pathogenic variants in genes involved in hematopoiesis and genomic integrity. Despite sharing common phenotypical manifestations that have aided opportune diagnosis, such as bone marrow failure, congenital malformations and an increased predisposition to develop cancer, little is…
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