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

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

BMC medical genomics - 19 Aug 2022

Wang Qian, Wang Cong, Wei Wen Bin, Rong Wei Ning, Shi Xiang Yu

Abstract excerpt

BACKGROUND: This study was to report a novel CREBBP mutation and phenotype in a child with Rubinstein-Taybi syndrome. METHODS: Case report of a 9-year-old boy. RESULTS: We described the patient's clinical manifestations in detail, and found that in addition to the typical systemic manifestations of the syndrome, the outstanding manifestation of the child was severe intellectual deficiency and prominent ocular...

Read the complete abstract on PubMed

Topics

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

Share to CREB-Binding Protein
Share to Exome Sequencing
Share to HSP90 Heat-Shock Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Phenotype

Share to Rubinstein-Taybi Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 35986282
DOI: 10.1186/s12920-022-01335-4
PMCID: PMC9389776

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel CREBBP mutation and its phenotype in a case of Rubinstein-Taybi syndrome.PMID 35986282Read ↗

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

Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report.Semantic proximity Read ↗

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

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

Rubinstein-Taybi syndrome: clinical and molecular overview.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 ↗

CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.Semantic proximity Read ↗

A case report on Rubinsein-Taybi syndrome associated with a de novo CREBBP gene mutation.Semantic proximity Read ↗

Genetic and clinical heterogeneity in Korean patients with 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 ↗

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

New point mutation in CREBBP Gene cause Rubinstein-Taybi syndrome: A case reportSemantic proximity Read ↗

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