“…[4][5][6][7][8][9] A frameshift mutation in RPL26 was identified in one patient. 10 Mutations resulting in haploinsufficiency or loss-of-function in all 10 genes thus far described include missense mutations, nonsense mutations, splice mutations, insertions, deletions and rearrangements. 11,12 Recently mutations in the erythroid transcription regulator GATA1, apparently not involving any disruption in ribosome biogenesis/function, have been discovered as causative in rare cases of X-linked clinical DBA.…”