Rubinstein–Taybi syndrome European Journal of Human Genetics

Forgotten Diseases Research Foundation

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

Rubinstein-Taybi Syndrome

Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes

Rubinstein-Taybi Syndrome

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

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

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

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

Genes, Free Full-Text

Spectrum of CREBBP gene dosage anomalies in Rubinstein–Taybi Syndrome patients