7p22.3 microdeletion disrupting SNX8 in a patient presenting with intellectual disability but no tetralogy of Fallot

Am J Med Genet A. 2014 Aug;164A(8):2133-5. doi: 10.1002/ajmg.a.36566. Epub 2014 Apr 8.
No abstract available

Publication types

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

MeSH terms

  • Chromosomes, Human, Pair 7*
  • Female
  • Heart Defects, Congenital / genetics*
  • Humans
  • Sorting Nexins / genetics*
  • Tetralogy of Fallot / genetics*

Substances

  • Sorting Nexins