Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum

Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused byEP300mutations

(2016) Patricia Fergelot et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant

(2016) María López et al.   BMC Medical Genetics

Rubinstein–Taybi syndrome type 2

(2016) Mark J. Hamilton et al.   CLINICAL DYSMORPHOLOGY

Expanding the phenotypic spectrum inEP300-related Rubinstein-Taybi syndrome

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

From Whole Gene Deletion to Point Mutations ofEP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks

(2015) Gloria Negri et al.   HUMAN MUTATION

Mendelian Disorders of the Epigenetic Machinery: Tipping the Balance of Chromatin States

(2014) Jill A. Fahrner et al.   Annual Review of Genomics and Human Genetics

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

(2014) G. Negri et al.   CLINICAL 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