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

PDF) An unusual presentation of Rubinstein-Taybi Syndrome with bilateral postaxial polydactyly Corresponding author

OMIM diseases as a function of associated HPO phenotypes. Data include

Genes involved in histone acetylation known to cause rare diseases

Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein–Taybi Syndrome kids with high frequency of polydactyly - Yu - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library

Mosaic CREBBP mutation causes overlapping clinical features of

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

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

Growth charts for individuals with Rubinstein–Taybi syndrome - Beets - 2014 - American Journal of Medical Genetics Part A - Wiley Online Library

Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract - Europe PMC

Rubinstein–Taybi syndrome: clinical and molecular overview