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

@article{Petrif1995RubinsteinTaybiSC,
  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},
  journal={Nature},
  year={1995},
  volume={376},
  pages={348-351}
}
  • 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
    Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.
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    Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients
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    Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome.
    • 116

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