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Article

A New EP300 -Related Syndrome With Prominent Developmental and Immune Phenotypes.

American journal of medical genetics. Part A - 1 Aug 2025

Maripuri Devi Priyanka, Gold Jessica, Gold Nina, Strong Alanna

Abstract excerpt

Rubinstein Taybi syndrome (RTS) is a disorder of chromatin remodeling and transcriptional regulation caused by heterozygous pathogenic variants in CREBBP and EP300. RTS is characterized by a distinct facial gestalt, intellectual disability, structural kidney and heart differences, feeding difficulties, and broad thumbs and great toes. Individuals with EP300 variants tend to have milder disease, but overall...

Read the complete abstract on PubMed

Topics

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Share to Child, Preschool
Share to CREB-Binding Protein
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Methylation

Share to E1A-Associated p300 Protein

Share to Mutation, Missense

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Source

Identifiers

PMID: 40167301
DOI: 10.1002/ajmg.a.64050

Genes

EP300
CREBBP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A New EP300 -Related Syndrome With Prominent Developmental and Immune Phenotypes.PMID 40167301Read ↗

Identical EP300 variant leading to Rubinstein-Taybi syndrome with different clinical and immunologic phenotype.Semantic proximity Read ↗

Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene.Semantic proximity Read ↗

Exome sequencing identifies a novel EP300 frame shift mutation in a patient with features that overlap Cornelia de Lange syndrome.Semantic proximity Read ↗

Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein-Taybi Syndrome With Atypical and Severe Clinical Manifestations.Semantic proximity Read ↗

Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder.Semantic proximity Read ↗

A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with Atypical Rubinstein-Taybi Syndrome Phenotypes.Semantic proximity Read ↗

Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome.Semantic proximity Read ↗

Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.Semantic proximity Read ↗

Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.Semantic proximity Read ↗

EP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patients.Semantic proximity Read ↗

First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant.Semantic proximity Read ↗

From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.Semantic proximity Read ↗

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