PDF) Rubinstein-Taybi 2 associated to novel EP300 mutations: Deepening the clinical and genetic spectrum

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

Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations - Fergelot - 2016 - American Journal of Medical Genetics Part A - Wiley Online Library

Genes, Free Full-Text

PDF) New point mutation in CREBBP Gene cause Rubinstein-Taybi syndrome: A case report

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 - an overview

EP300‐related Rubinstein–Taybi syndrome: Highlighted rare phenotypic findings and a genotype–phenotype meta‐analysis of 74 patients - Cohen - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library

PDF) Genetic and clinical heterogeneity in Korean patients with Rubinstein– Taybi syndrome

PDF) Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder

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 in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics

A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics

Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein –Taybi syndrome detected by aCGH