We would like to apologise for a number of errors that were published online in the paper by Kohlhase et al, (J Med Genet 2003;40:e127). R276X was incorrectly referred to as ArgR276X throughout the first page of the article. In addition, the first sentence of the second paragraph of the paper should read: Twenty three of 24 SALL1 mutations known to date are located in exon 2 (^{2 5–11} and unpublished results).