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

Genes, Free Full-Text

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

PDF) Rubinstein–Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach

PDF) Electroclinical phenotype in Rubinstein–Taybi syndrome

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

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

Full article: Follicular lymphoma, a B cell malignancy addicted to epigenetic mutations

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

Genes, Free Full-Text

Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients, BMC Medical Genetics

Full article: Follicular lymphoma, a B cell malignancy addicted to epigenetic mutations

A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with Atypical Rubinstein–Taybi Syndrome Phenotypes

Protein Lysine Acetylation by p300/CBP

Somatic genomic alterations in retinoblastoma beyond RB1 are rare and limited to copy number changes

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