Rubinstein-Taybi syndrome and Hirschsprung disease in a patient harboring an intragenic deletion of the CREBBP gene

Am J Med Genet A. 2010 Jul;152A(7):1847-8. doi: 10.1002/ajmg.a.33480.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • CREB-Binding Protein / genetics*
  • Female
  • Hirschsprung Disease / complications*
  • Hirschsprung Disease / genetics*
  • Humans
  • Infant, Newborn
  • Male
  • Pregnancy
  • Rubinstein-Taybi Syndrome / complications*
  • Rubinstein-Taybi Syndrome / genetics*
  • Sequence Deletion / genetics*

Substances

  • CREB-Binding Protein
  • CREBBP protein, human