For instance, heterozygous mutations in human RpS19, RpS24, RpS17, RpL5, RpL11 or RpL35A are linked to diamond-Blackfan anaemia (DBA), and some DBA patients exhibit tissue-specific developmental defects, including limb defects, cleft palate, and abnormal heart development. The gene discussed is RPL35A; the disease is Diamond-Blackfan anemia.