The authors declare that there are no conflicts of interest.
Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene
Version of Record online: 17 FEB 2014
© 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
Volume 87, Issue 2, pages 148–154, February 2015
How to Cite
Negri, G., Milani, D., Colapietro, P., Forzano, F., Della Monica, M., Rusconi, D., Consonni, L., Caffi, L. G., Finelli, P., Scarano, G., Magnani, C., Selicorni, A., Spena, S., Larizza, L. and Gervasini, C. (2015), Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene. Clinical Genetics, 87: 148–154. doi: 10.1111/cge.12348
- Issue online: 19 JAN 2015
- Version of Record online: 17 FEB 2014
- Accepted manuscript online: 29 JAN 2014 07:29AM EST
- Manuscript Accepted: 16 JAN 2014
- Manuscript Revised: 15 JAN 2014
- Manuscript Received: 17 DEC 2013
|cge12348-sup-0001-FigureS1.tif||TIFF image||130K||Fig. S1. Schematic representation of the EP300 gene with all sequence alterations identified to date. Point mutations are indicated above the gene and intragenic deletions below. The most frequent mutations are insertions/deletions , followed by stop mutations  and intragenic deletions . Only two splicing mutations and one missense mutation have been identified. Mutations identified in this study are indicated with a star.|
|cge12348-sup-0002-TableS1.doc||Word document||49K||Table S1. All reported EP300 mutations in Rubinstein-Taybi patients. Point mutations (A) and exonic deletions (B)|
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