We sequenced all exons of PDS5B and PDS5A and their adjacent intronic sequences that harbor splicing signals in 114 individuals with CdLS that had been screened previously for mutations in NIPBL, SMC1A and SMC3 (See Table S2 and S3 in Supplementary Data and Materials S1 for primer information). This evidence concerns the gene PDS5B and Cornelia de Lange syndrome.