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

Genotype-phenotype analysis of ocular findings in Rubinstein-Taybi syndrome - A case report and review of literature.

Ophthalmic genetics - 1 Feb 2024

Jin Eva, Le Hong, Jewell Ann, Couser Natario L

Abstract excerpt

BACKGROUND: Rubinstein-Taybi syndrome (RSTS) is a rare genetic syndrome with a wide range of phenotypic presentations, including characteristic facial features. A variety of ocular abnormalities have been described in patients with RSTS. The genetic etiology of RSTS is heterogeneous but often involves two major genes, CREBBP (cAMP-response element binding protein-binding protein) and EP300 (E1A binding protein...

Read the complete abstract on PubMed

Topics

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

Share to Frameshift Mutation
Share to CREBBP gene
Share to Genetic Association Studies

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genotype

Share to Mutation

Share to Phenotype

Share to Rubinstein-Taybi Syndrome

Source

Identifiers

PMID: 37017262
DOI: 10.1080/13816810.2023.2196341

Genes

CREBBP
EP300

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genotype-phenotype analysis of ocular findings in Rubinstein-Taybi syndrome - A case report and review of literature.PMID 37017262Read ↗

Genetic and clinical heterogeneity in Korean patients with Rubinstein-Taybi syndrome.Semantic proximity Read ↗

A novel CREBBP mutation and its phenotype in a case of Rubinstein-Taybi syndrome.Semantic proximity Read ↗

Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients.Semantic proximity Read ↗

A novel CREBBP mutation and its phenotype in a case of Rubinstein-Taybi syndromeSemantic proximity Read ↗

Rubinstein-Taybi syndrome in Chinese population with four novel mutations.Semantic proximity Read ↗

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

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

Clinical and Genetic Management of a Patient with Rubinstein-Taybi Syndrome Type 1: A Case ReportSemantic proximity Read ↗

Rubinstein-Taybi syndrome in diverse populations.Semantic proximity Read ↗

Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300.Semantic proximity Read ↗

Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.Semantic proximity Read ↗

[Clinical features of Rubinstein-Taybi syndrome and novel mutation in the CREBBP gene: an analysis of one case].Semantic proximity Read ↗

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