CREBBPandEP300mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome

Expanding the phenotypic spectrum inEP300-related Rubinstein-Taybi syndrome

(2015) Benjamin D. Solomon et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of theEP300gene

(2014) G. Negri et al.   CLINICAL GENETICS

Exome sequencing identifies a novelEP300frame shift mutation in a patient with features that overlap cornelia de lange syndrome

(2013) Susan A. Woods et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Inheritance and variable expression in Rubinstein-Taybi syndrome

(2010) Oliver Bartsch et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein–Taybi syndrome detected by aCGH

(2010) Anne Chun-Hui Tsai et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome

(2009) Oliver Bartsch et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Further case of Rubinstein-Taybi syndrome due to a deletion in EP300

(2009) Patricia Foley et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome

(2009) Pei-Wen Chiang et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genotype-phenotype correlations in Rubinstein-Taybi syndrome

(2008) E.K. Schorry et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A