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article_metadata: 10.1111/cge.14654
article_metadata: Clin Genet
article_metadata: 2025 Mar;107(3):354-358.
article_metadata: ep300 gnas rubinstein–taybi episignature p300 ring domain
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/39603792/
article_metadata: E1A-Associated p300 Protein / genetics Exons / genetics Rubinstein-Taybi Syndrome / genetics Rubinstein-Taybi Syndrome / pathology
article_metadata: E1A-Associated p300 Protein / genetics Exons / genetics Rubinstein-Taybi Syndrome / genetics Rubinstein-Taybi Syndrome / pathology Case Reports CREB-Binding Protein / genetics Child Child, Preschool DNA Methylation / genetics Exome Sequencing Female Genetic Association Studies Genetic Predisposition to Disease Haploinsufficiency / genetics Humans Male Mutation Phenotype E1A-Associated p300 Protein EP300 protein, human CREB-Binding Protein CREBBP protein, human
article_metadata: PMC11790522
article_metadata: 39603792
article_metadata: Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein-Taybi Syndrome With Atypical and Severe Clinical Manifestations
article_metadata: 2025