High frequency of copy number imbalances in Rubinstein–Taybi

The clinical context of copy number variation in the human genome, Expert Reviews in Molecular Medicine

Frontiers Genetic Predisposition to Solid Pediatric Cancers

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization, BMC Genomics

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

Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire

PDF) New dysmorphic features in Rubinstein-Taybi syndrome

Rubinstein–Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach - Ajmone - 2018 - American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - Wiley Online Library

The clinical context of copy number variation in the human genome, Expert Reviews in Molecular Medicine

Rubinstein-Taybi syndrome: MedlinePlus Genetics

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