For instance, heterozygous mutations in various ribosomal protein genes, including RPS17,1RPS26,2RPS19,3RPS24,4 and RPL27,5 are associated with Diamond-Blackfan anemia (DBA), with some patients exhibiting tissue-specific developmental anomalies, such as limb defects, cleft palate, and abnormal heart development.6 The gene discussed is RPL27; the disease is Diamond-Blackfan anemia.