PDF) Genetic heterogeneity in Rubinstein-Taybi syndrome: Delineation of the phenotype of the first patients carrying mutations in EP300

PDF) Genetic heterogeneity in Rubinstein-Taybi syndrome: Delineation of the phenotype of the first patients carrying mutations in EP300

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

Frontiers Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome

Microdeletions and mutations of CREBBP (CBP) gene can cause

Rubinstein-Taybi Syndrome

Frontiers Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome

PDF] Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome

Psychiatric Profile in Rubinstein-Taybi Syndrome

Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics

PDF) The behavioral phenotype of Rubinstein–Taybi syndrome: A scoping review of the literature