Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

American journal of medical genetics. Part A - 1 Jan 2014

Woods Susan A, Robinson Haynes B, Kohler Lisa J, Agamanolis Dimitris, Sterbenz George, Khalifa Mohamed

Abstract excerpt

Rubinstein-Taybi syndrome (RTS) and Cornelia de Lange syndrome (CdLS) are genetically heterogeneous multiple anomalies syndromes, each having a distinctive facial gestalt. Two genes (CREBBP and EP300) are known to cause RTS, and five (NIPBL, SMC1A, SMC3, RAD21, and HDAC8) have been associated with CdLS. A diagnosis of RTS or CdLS is molecularly confirmed in only 65% of clinically identified cases, suggesting that...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Autopsy
Share to De Lange Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to E1A-Associated p300 Protein

Share to Facies

Share to Fatal Outcome

Share to Frameshift Mutation

Share to Rubinstein-Taybi Syndrome

Source

Identifiers

PMID: 24352918
DOI: 10.1002/ajmg.a.36237

Genes

CREBBP
HDAC8
NIPBL
SMC3
RAD21

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Exome sequencing identifies a novel EP300 frame shift mutation in a patient with features that overlap Cornelia de Lange syndrome.PMID 24352918Read ↗

A New EP300 -Related Syndrome With Prominent Developmental and Immune Phenotypes.Semantic proximity Read ↗

Divergent variant patterns among 19 patients with Rubinstein-Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing.Semantic proximity Read ↗

Pathogenic variants in EP300 and ANKRD11 in patients with phenotypes overlapping 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 ↗

Genome-wide sequencing expands the phenotypic spectrum of EP300 variants.Semantic proximity Read ↗

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

Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum.Semantic proximity Read ↗

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

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

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

The Phenotype-Based Approach Can Solve Cold Cases: The Paradigm of Mosaic Mutations of the CREBBP Gene.Semantic proximity Read ↗

New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patientsSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.