RPS19 and Blackfan-Diamond anemia: This association has been investigated in considerable detail in Treacher-Collins-Franceschetti syndrome 1, most often caused by mutations in TCOF1 (Teber et al., 2004), and Diamond-Blackfan anemia, most often caused by mutation in the genes encoding ribosomal proteins S19 and S24 (RPS19, RPS24) (Draptchinskaia et al., 1999; Gazda et al., 2006).