SALL4 and Okihiro syndrome: For instance, a mutation in SALL1 is linked to the autosomal disease, called Townes-Brocks syndrome (Netzer et al. 2006), while mutant forms of SALL2 are present in human ovarian carcinoma (Toker et al. 2003) and a mutation in SALL4 leads to Okihiro syndrome (Duane-radial ray syndrome) (Kohlhase et al. 2005).