Rubinstein - Taybi syndrome: phenotypic characteristics

Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300

Two Pathogenic Variants in Two Ultra Rare Syndromes; Smith- Kingsmore Syndrome and Rubinstein Taybi Syndrome Type2

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

Rubinstein-Taybi syndrome: MedlinePlus Genetics

Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300

Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease - ScienceDirect

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

Rubinstein-Taybi Syndrome: A case report

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

PDF) Oro-dental features as useful diagnostic tool in Rubinstein–Taybi syndrome

From Diagnosis to Management : Rubinstein – Taybi Syndrome

Rubinstein-Taybi syndrome: A report of two siblings with unreported cutaneous stigmata - Indian Journal of Dermatology, Venereology and Leprology

Rubinstein-Taybi syndrome: MedlinePlus Genetics

Rubinstein-Taybi Syndrome