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

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

Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature

Rubinstein - Taybi Syndrome (Rubinstein syndrome, broad thumb-hallux syndrome, broad thumbs and great toes, characteristic facies and mental retardation) - Dermatology Advisor

Rubinstein-Taybi syndrome with agenesis of corpus callosum. - Abstract - Europe PMC

Genes, Free Full-Text

Expert Reviews in Molecular Medicine

Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP Gene Pathogenic Variant

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

Rubinstein-Taybi Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

An unusual presentation of Rubinstein-Taybi Syndrome with bilateral postaxial polydactyly

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

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

Rubinstein–Taybi syndrome European Journal of Human Genetics

PDF) Rubinstein-Taybi Syndrome: A Case Report

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