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Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
- Correspondence to: Dr D Bartholdi Institute of Medical Genetics, University of Zurich, Schorenstrasse 16, 8603 Schwerzenbach, Switzerland; bartholdi{at}medgen.unizh.ch
Citation
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
Publication history
- Received September 28, 2006
- Accepted December 23, 2006
- Revised November 29, 2006
- First published January 12, 2007.
Online issue publication
April 27, 2016
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Copyright 2007 Journal of Medical Genetics