Rubinstein-Taybi Syndrome 1

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

Low bone mineral density on DXA and slipped capital femoral epiphysis as rare presentation in a child with Rubinstein-Taybi syndrome

Forgotten Diseases Research Foundation

Rubinstein-Taybi Syndrome

Adults with Rubinstein–Taybi syndrome - Stevens - 2011 - American Journal of Medical Genetics Part A - Wiley Online Library

A Case of Rubinstein-Taybi Syndrome with Tetralogy of Fallot

Rubinstein-Taybi syndrome: MedlinePlus Genetics

Frontiers Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP gene

Figure 1 from Thyroid Hypoplasia as a Cause of Congenital Hypothyroidism in Monozygotic Twins Concordant for Rubinstein-Taybi Syndrome.

Divergent variant patterns among 19 patients with Rubinstein‐Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing - Enomoto - 2022 - Clinical Genetics - Wiley Online Library