A novel mutation c.4003 G>C in the CREBBP gene in an adult female with Rubinstein-Taybi syndrome presenting with subtle dysmorphic features

Am J Med Genet A. 2010 Nov;152A(11):2939-41. doi: 10.1002/ajmg.a.33693.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Comment

MeSH terms

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

Substances

  • CREB-Binding Protein
  • CREBBP protein, human