Expanding the phenotype associated to KMT2A variants: overlapping

Exon deletions of the EP300 and CREBBP genes in two children with

Rubinstein–Taybi syndrome European Journal of Human Genetics

PDF) Oro-dental features as useful diagnostic tool in Rubinstein–Taybi syndrome

Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients

PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome

PDF) Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: A case report

Subclass IgG levels of patients with Rubinstein-Taybi syndrome compared

About - DECIPHER v11.23

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

A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics