Rubinstein-Taybi syndrome in first cousins with different de novo mutations

Am J Med Genet A. 2010 Apr;152A(4):1036-8. doi: 10.1002/ajmg.a.33259.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Comment

MeSH terms

  • Adolescent
  • Adult
  • CREB-Binding Protein / genetics
  • Family*
  • Female
  • Humans
  • Infant, Newborn
  • Male
  • Mutation / genetics*
  • Pedigree
  • Pregnancy
  • Rubinstein-Taybi Syndrome / genetics*

Substances

  • CREB-Binding Protein
  • CREBBP protein, human