CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome.

@article{Wincent2016CREBBPAE,
  title={CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome.},
  author={Josephine Wincent and Aron Luthman and Martine J. van Belzen and Christian A C van der Lans and Johanna Albert and Ann Nordgren and B M Anderlid},
  journal={Molecular genetics & genomic medicine},
  year={2016},
  volume={4 1},
  pages={39-45}
}
Rubinstein-Taybi syndrome (RTS) is a rare autosomal dominant congenital disorder characterized by distinctive facial features, broad thumbs and halluces, growth retardation, and a variable degree of cognitive impairment. CREBBP is the major causative gene and mutations in EP300 are the cause of RTS in a minority of patients. In this study, 17 patients with a clinical diagnosis of RTS were investigated with direct sequencing, MLPA, and array-CGH in search for mutations in these two genes. Eleven… CONTINUE READING
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