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

Abstract

23 and mutations at SALL4 have been shown to be causative in patients with Okihiro/Duane-radial ray syn- drome (OMIM No 607323). 45 SALL2 6 and SALL3 7 have not yet...