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

Eitemau Tebyg

• Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum
  gan: Borozdin, W, et al.
  Cyhoeddwyd: (2004)
• Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy
  gan: Kohlhase, J, et al.
  Cyhoeddwyd: (2003)
• Ocular manifestations in Okihiro Syndrome
  gan: Garcia-Martin, Elena, et al.
  Cyhoeddwyd: (2012)
• Okihiro syndrome and acro-renal-ocular syndrome: clinical overlap, expansion of the phenotype, and absence of PAX2 mutations in two new families
  gan: Becker, K, et al.
  Cyhoeddwyd: (2002)
• Sall1, Sall2, and Sall4 Are Required for Neural Tube Closure in Mice
  gan: Böhm, Johann, et al.
  Cyhoeddwyd: (2008)