A novel mutation c.4003 G>C in the CREBBP gene in an adult female with Rubinstein–Taybi syndrome presenting with subtle dysmorphic features - Li - 2010 - American Journal of Medical Genetics Part

Identification of 22q11.2 deletion in a patient with schizophrenia and clinically diagnosed Rubinstein–Taybi syndrome - Nagai - 2022 - Psychiatry and Clinical Neurosciences Reports - Wiley Online Library

Molecular diagnostic experience of whole-exome sequencing in adult patients

Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients, BMC Medical Genetics

Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome

Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients, BMC Medical Genetics

Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS

Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library

Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine

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

PDF) Rubinstein-Taybi syndrome: Clinical features, genetic basis, diagnosis, and management

PDF) Rubinstein-Taybi syndrome: Clinical features, genetic basis, diagnosis, and management

High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis

EP300‐related Rubinstein–Taybi syndrome: Highlighted rare phenotypic findings and a genotype–phenotype meta‐analysis of 74 patients - Cohen - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library

PDF) Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein-Taybi syndrome

Next generation sequencing identified two novel mutations in NIPBL and a frame shift mutation in CREBBP in three Chinese children, Orphanet Journal of Rare Diseases