Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

  title={Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP},
  author={Fred Petrif and R. Giles and H. Dauwerse and J. Saris and R. Hennekam and M. Masuno and N. Tommerup and G. Ommen and R. Goodman and D. Peters and M. Breuning},
  • Fred Petrif, R. Giles, +8 authors M. Breuning
  • Published 1995
  • Biology, Medicine
  • Nature
  • THE Rubinstein-Taybi syndrome (RTS) is a well-defined syndrome with facial abnormalities, broad thumbs, broad big toes and mental retardation as the main clinical features1-3. Many patients with RTS have been shown to have breakpoints in, and microdeletions of, chromosome 16pl3.3 (refs 4-8). Here we report that all these breakpoints are restricted to a region that contains the gene for the human CREB binding protein (CBP), a nuclear protein participating as a co-activator in cyclic-A IMP… CONTINUE READING
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