Microdeletions and mutations of CREBBP (CBP) gene can cause

Exon deletions of the EP300 and CREBBP genes in two children with

Facial features of Rubinstein-Taybi syndrome

PDF) Rubinstein-Taybi syndrome medical guidelines

Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family

CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder

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

CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome - Wincent - 2016 - Molecular Genetics & Genomic Medicine - Wiley Online Library

High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis

Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine

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