Okihiro syndrome and acro-renal-ocular syndrome: clinical overlap, expansion of the phenotype, and absence of PAX2 mutations in two new families

פריטים דומים

• 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
  מאת: Kohlhase, J, et al.
  יצא לאור: (2003)
• SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism
  מאת: Borozdin, W, et al.
  יצא לאור: (2004)
• Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum
  מאת: Borozdin, W, et al.
  יצא לאור: (2004)
• Ocular manifestations in Okihiro Syndrome
  מאת: Garcia-Martin, Elena, et al.
  יצא לאור: (2012)
• Microcephaly-cardiomyopathy syndrome: expansion of the phenotype
  מאת: Becker, K, et al.
  יצא לאור: (2003)