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

J Med Genet. 2004 Aug;41(8):e102. doi: 10.1136/jmg.2004.019505.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Child, Preschool
  • Duane Retraction Syndrome / genetics*
  • Duane Retraction Syndrome / pathology
  • Eye Abnormalities / genetics*
  • Eye Abnormalities / pathology
  • Female
  • Humans
  • Kidney / abnormalities*
  • Kidney / pathology
  • Male
  • Molecular Sequence Data
  • Mutation / genetics*
  • Pedigree
  • Phenotype
  • Syndrome
  • Transcription Factors / genetics*
  • Transcription Factors / physiology

Substances

  • SALL4 protein, human
  • Transcription Factors

Associated data

  • RefSeq/NM_020436
  • RefSeq/NT_011362