Thus, several genes associated with ribosomal biogenesis, including some associated with pre-rRNA processing, cause complex pathology often including craniofacial defects – such as the mutation of TCOF1 in Treacher Collins Syndrome and the mutation of ribosomal protein genes in Diamond Blackfan Anemia (Farley-Barnes et al., 2019). Here, TCOF1 is linked to Blackfan-Diamond anemia.