SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism

Borozdin, WiktorBoehm, DetlefLeipoldt, MichaelWilhelm, C.Reardon, WilliamClayton-Smith, J.Sılan, Fatma2021-06-232021-06-2320040022-2593https://doi.org/10.1136/jmg.2004.019901https://hdl.handle.net/20.500.12491/5572The 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.eninfo:eu-repo/semantics/openAccessSyndromeDeletionSALL4HaploinsufficiencySALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanismArticle10.1136/jmg.2004.01990141915342710WOS:000223635200019Q1