Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome

First case of Rubinstein–Taybi syndrome with desquamation associated with a novel mutation in the bromodomain of the CREBBP gene - Wang - 2019 - Clinical and Experimental Dermatology - Wiley Online Library

PDF) Rubinstein-Taybi syndrome: Dental manifestations and management

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

PDF) Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: A case report

Microdeletions and mutations of CREBBP (CBP) gene can cause

Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein- Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia – topic of research paper in Clinical medicine. Download scholarly article PDF

Main clinical findings of the 16 Brazilian patients with

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

Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management, Italian Journal of Pediatrics

Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of