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.

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.

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