Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum

Παρόμοια τεκμήρια

• SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism
  ανά: Borozdin, W, κ.ά.
  Έκδοση: (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
  ανά: Kohlhase, J, κ.ά.
  Έκδοση: (2003)
• Ocular manifestations in Okihiro Syndrome
  ανά: Garcia-Martin, Elena, κ.ά.
  Έκδοση: (2012)
• Okihiro syndrome and acro-renal-ocular syndrome: clinical overlap, expansion of the phenotype, and absence of PAX2 mutations in two new families
  ανά: Becker, K, κ.ά.
  Έκδοση: (2002)
• Sall1, Sall2, and Sall4 Are Required for Neural Tube Closure in Mice
  ανά: Böhm, Johann, κ.ά.
  Έκδοση: (2008)