The suspicion was later confirmed by the NGS panel (Bone Marrow Failure Syndrome Panel; Illumina, San Diego CA, United States), detecting a heterozygous monoallelic pathogenic variant in RPS19 [NM_001022.3: c.185G>C, (p.Arg62Pro)], with no report in population databases, previously reported and associated to DBA. Here, RPS19 is linked to Diamond-Blackfan anemia.