Transposition of the great vessels in a patient with a 2.9 Mb interstitial deletion of 9q31.1 encompassing the inversin gene: clinical report and review

Am J Med Genet A. 2008 May 1;146A(9):1225-9. doi: 10.1002/ajmg.a.32289.
No abstract available

Publication types

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

MeSH terms

  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 9 / genetics*
  • Craniofacial Abnormalities / genetics
  • Female
  • Humans
  • Intellectual Disability / genetics
  • Phenotype
  • Transcription Factors / genetics*
  • Transposition of Great Vessels / genetics*

Substances

  • INVS protein, human
  • Transcription Factors