Figure 3.
The genetic, subcellular, and molecular landscape of inherited BMF syndromes. The predominant molecular functions of the genes involved in the inherited BMF syndromes are illustrated in a cell diagram. The most clinically significant genes involved in the pathways are shown within the blue ellipses; for full listings of other genes, please refer to Tables 3-10. Outward-pointing arrows indicate different clinical subtypes and overlapping syndromes, as discussed in the text, which are caused by defects in the molecular pathways.