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

অনুরূপ উপাদানগুলি

• 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
  অনুযায়ী: Kohlhase, J, অন্যান্য
  প্রকাশিত: (2003)
• SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism
  অনুযায়ী: Borozdin, W, অন্যান্য
  প্রকাশিত: (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
  অনুযায়ী: Borozdin, W, অন্যান্য
  প্রকাশিত: (2004)
• Ocular manifestations in Okihiro Syndrome
  অনুযায়ী: Garcia-Martin, Elena, অন্যান্য
  প্রকাশিত: (2012)
• Microcephaly-cardiomyopathy syndrome: expansion of the phenotype
  অনুযায়ী: Becker, K, অন্যান্য
  প্রকাশিত: (2003)