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    SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism
    (Bmj Publishing Group, 2004) Borozdin, Wiktor; Boehm, Detlef; Leipoldt, Michael; Wilhelm, C.; Reardon, William; Clayton-Smith, J.; Sılan, Fatma
    The SALL genes, similar to the Drosophila gene spalt, 1 probably 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.