A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation

Am J Med Genet A. 2007 Aug 1;143A(15):1802-5. doi: 10.1002/ajmg.a.31808.
No abstract available

Publication types

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

MeSH terms

  • Aniridia / genetics*
  • Ataxia / genetics*
  • Child
  • Codon, Nonsense
  • Eye Proteins / genetics*
  • Female
  • Homeodomain Proteins / genetics*
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • PAX6 Transcription Factor
  • Paired Box Transcription Factors / genetics*
  • Parents
  • Repressor Proteins / genetics*

Substances

  • Codon, Nonsense
  • Eye Proteins
  • Homeodomain Proteins
  • PAX6 Transcription Factor
  • PAX6 protein, human
  • Paired Box Transcription Factors
  • Repressor Proteins