[Rubinstein-Taybi syndrome: a familial form]

Arch Pediatr. 2004 Aug;11(8):978-9. doi: 10.1016/j.arcped.2004.05.014.
[Article in French]
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child
  • Chromosome Deletion
  • Chromosomes, Human, Pair 16 / genetics
  • Cyclic AMP Response Element-Binding Protein / genetics
  • Female
  • Genes, Dominant / genetics
  • Genetic Counseling
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Mosaicism / genetics
  • Pedigree
  • Rubinstein-Taybi Syndrome* / diagnosis
  • Rubinstein-Taybi Syndrome* / genetics

Substances

  • Cyclic AMP Response Element-Binding Protein