CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome - Wincent - 2016 - Molecular Genetics & Genomic Medicine - Wiley Online Library

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

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

Rubinstein-Taybi Syndrome and Epigenetic Alterations

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CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome - Wincent - 2016 - Molecular Genetics & Genomic Medicine - Wiley Online Library

Rubinstein-Taybi Syndrome and Epigenetic Alterations

CREBBP mutations in individuals without Rubinstein–Taybi syndrome phenotype - Menke - 2016 - American Journal of Medical Genetics Part A - Wiley Online Library

A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with Atypical Rubinstein–Taybi Syndrome Phenotypes

Rubinstein-Taybi Syndrome and Epigenetic Alterations. - Abstract - Europe PMC

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