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

Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant

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

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

PDF) FISH studies in 45 patients with Rubinstein-Taybi syndrome: Deletions associated with polysplenia, hypoplastic left heart and death in infancy

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

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

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

IJMS, Free Full-Text

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

Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes

Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant

Microdeletions and mutations of CREBBP (CBP) gene can cause

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