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

مواد مشابهة

• Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum
  بواسطة: Borozdin, W, وآخرون
  منشور في: (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
  بواسطة: Kohlhase, J, وآخرون
  منشور في: (2003)
• Ocular manifestations in Okihiro Syndrome
  بواسطة: Garcia-Martin, Elena, وآخرون
  منشور في: (2012)
• Okihiro syndrome and acro-renal-ocular syndrome: clinical overlap, expansion of the phenotype, and absence of PAX2 mutations in two new families
  بواسطة: Becker, K, وآخرون
  منشور في: (2002)
• Sall1, Sall2, and Sall4 Are Required for Neural Tube Closure in Mice
  بواسطة: Böhm, Johann, وآخرون
  منشور في: (2008)