Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients

@article{Bentivegna2006RubinsteinTaybiSS,
  title={Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients},
  author={Angela Bentivegna and Donatella Milani and Cristina Giovanna Gervasini and Paola Castronovo and Federica Mottadelli and Stefano Manzini and Patrizia Colapietro and L Giordano and Francesca Atzeri and Maria Teresa Divizia and Maria Luisa Giovannucci Uzielli and Giovanni Neri and Maria F Bedeschi and Francesca Faravelli and Angelo Selicorni and L Larizza},
  journal={BMC Medical Genetics},
  year={2006},
  volume={7},
  pages={77 - 77}
}
Rubinstein-Taybi Syndrome (RSTS, MIM 180849) is a rare congenital disorder characterized by mental and growth retardation, broad and duplicated distal phalanges of thumbs and halluces, facial dysmorphisms and increased risk of tumors. RSTS is caused by chromosomal rearrangements and point mutations in one copy of the CREB-binding protein gene (CREBBP or CBP) in 16p13.3. To date mutations in CREBBP have been reported in 56.6% of RSTS patients and an average figure of 10% has ascribed to… CONTINUE READING

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