JOURNAL OF MEDICAL GENETICS, cilt.41, ss.1-8, 2004 (SCI-Expanded)
The SALL genes, similar to the Drosophila gene spalt,1probably encode zinc-finger transcription factors. In humans, four such genes have been identified to date. Mutations at SALL1 on chromosome 16q12.1 have been associated with Townes-Brocks syndrome and related phenotypes, 2 3 and mutations at SALL4 have been shown to be causative in patients with Okihiro/Duane-radial ray syndrome (OMIM No 607323).4 5 SALL26 and SALL37 have not yet been associated with human disease.