Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP

J Med Genet. 2002 Jul;39(7):496-501. doi: 10.1136/jmg.39.7.496.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Acetyltransferases / genetics
  • Adolescent
  • Adult
  • CREB-Binding Protein
  • Child
  • Child, Preschool
  • Codon / genetics*
  • DNA / genetics
  • DNA Mutational Analysis
  • Female
  • Genetic Variation / genetics*
  • Histone Acetyltransferases
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Mutation, Missense / genetics*
  • Nuclear Proteins / chemistry
  • Nuclear Proteins / genetics*
  • Protein Structure, Secondary / genetics
  • Rubinstein-Taybi Syndrome / diagnosis
  • Rubinstein-Taybi Syndrome / genetics*
  • Saccharomyces cerevisiae Proteins*
  • Trans-Activators / chemistry
  • Trans-Activators / genetics*

Substances

  • Codon
  • Nuclear Proteins
  • Saccharomyces cerevisiae Proteins
  • Trans-Activators
  • DNA
  • Acetyltransferases
  • CREB-Binding Protein
  • CREBBP protein, human
  • Histone Acetyltransferases