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

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

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

Epigenetics of cognition and behavior: insights from Mendelian disorders of epigenetic machinery, Journal of Neurodevelopmental Disorders

Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease - ScienceDirect

PDF) Genetic heterogeneity in Rubinstein-Taybi syndrome: Delineation of the phenotype of the first patients carrying mutations in EP300

Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library

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

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

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

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

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

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