Gazda et al. (2008) screened 196 probands with Diamond-Blackfan anemia for mutations in 25 genes encoding ribosomal proteins and identified a splice site mutation in the RP7 gene (603658.0001) in 1 proband, who had no associated malformations. The ... Gazda et al. (2008) screened 196 probands with Diamond-Blackfan anemia for mutations in 25 genes encoding ribosomal proteins and identified a splice site mutation in the RP7 gene (603658.0001) in 1 proband, who had no associated malformations. The mutation was not found in his unaffected sister or at least 150 controls, and functional studies demonstrated defects in the maturation of ribosomal RNAs associated with mutation in the RPS7 gene.