Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33153/fullpdf
Reference9 articles.
1. Genetic heterogeneity in Rubinstein-Taybi syndrome: Delineation of the phenotype of the first patients carrying mutations in EP300;Bartholdi;J Med Genet,2007
2. DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS;Bartsch;Hum Genet,2005
3. Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome;Coupry;J Med Genet,2002
4. Further case of Rubinstein-Taybi syndrome due to a deletion in EP300;Foley;Am J Med Genet Part A,2009
5. CBP and p300: HATs for different occasions;Kalkhoven;Biochemical Pharmacology,2004
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