Bone marrow failure syndromes
2020
Abstract Inherited bone marrow failure is caused by mutations in genes that are critical for normal cell development or intrinsic cell function. Because of the protean effects of the mutations, multi-organ involvement is common. Compromised growth and early senescence drive strong selective pressure to acquire oncogenic somatic abnormalities. Thus, testing should be performed on non-hematopoietic cells such as fibroblasts.
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