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

J Med Genet. 2004 Sep;41(9):e113. doi: 10.1136/jmg.2004.019901.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Base Sequence
  • Chromosome Breakage / genetics
  • Duane Retraction Syndrome / genetics*
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male
  • Pedigree
  • Phenotype
  • Polymerase Chain Reaction
  • Sequence Deletion / genetics*
  • Syndrome
  • Transcription Factors / genetics*

Substances

  • SALL4 protein, human
  • Transcription Factors