Rubinstein‐Taybi syndrome in Chinese population with four novel mutations - Yu - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library

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

Rubinstein‐Taybi syndrome in Chinese population with four novel mutations - Yu - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library

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

Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract - Connaughton - 2022 - American Journal of Medical Genetics Part C: Seminars in Medical Genetics - Wiley Online Library

PDF) Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

The missing link between genetic association and regulatory function

Journal of Cellular Physiology, Cell Biology Journal

Rubinstein–Taybi syndrome European Journal of Human Genetics

PDF) Rubinstein-Taybi syndrome in diverse populations

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

Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library

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