Chemical and genetic rescue of an ep300 knockdown model for Rubinstein Taybi Syndrome in zebrafish - ScienceDirect
Descrição
EP300 is a member of the EP300/CBP family of lysine acetyltransferases (KATs) with multiple roles in development and physiology. Loss of EP300/CBP act…
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Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly
Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum, BMC Medical Genetics
Histone deacetylase in neuropathology - ScienceDirect
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
Histone deacetylase in neuropathology - 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
PDF) Chemical and genetic rescue of an ep300 knockdown model for Rubinstein Taybi Syndrome in zebrafish
Role of the ADCY9 gene in cardiac abnormalities of the Rubinstein-Taybi syndrome, Orphanet Journal of Rare Diseases
De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia, BMC Medical Genomics
PDF) Chemical and genetic rescue of an ep300 knockdown model for Rubinstein Taybi Syndrome in zebrafish
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