Rubinstein–Taybi syndrome European Journal of Human Genetics

Genes, Free Full-Text

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

IJMS, Free Full-Text

First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant, BMC Medical Genetics

PDF) Rubinstein–Taybi syndrome (CREBBP, EP300) Martine van Belzen and Oliver Bartsch

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

Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics

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

Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP

New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients - Pérez‐Grijalba - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library