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

Benign and malignant tumors in Rubinstein-Taybi syndrome.

American journal of medical genetics. Part A - 1 Mar 2018

Boot Max V, van Belzen Martine J, Overbeek Lucy I, Hijmering Nathalie, Mendeville Matias, Waisfisz Quinten, Wesseling Pieter, Hennekam Raoul C, de Jong Daphne

Abstract excerpt

Rubinstein-Taybi syndrome (RSTS) is a multiple congenital anomalies syndrome associated with mutations in CREBBP (70%) and EP300 (5-10%). Previous reports have suggested an increased incidence of specific benign and possibly also malignant tumors. We identified all known individuals diagnosed with RSTS in the Netherlands until 2015 (n = 87) and studied the incidence and character of neoplastic tumors in relation...

Read the complete abstract on PubMed

Topics

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

Share to Biomarkers, Tumor
Share to E1A-Associated p300 Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Incidence

Share to Neoplasm Grading

Share to Neoplasms

Share to Netherlands

Share to Registries

Share to Rubinstein-Taybi Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 29359884
DOI: 10.1002/ajmg.a.38603
PMCID: PMC5838508

Genes

CREBBP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Benign and malignant tumors in Rubinstein-Taybi syndrome.PMID 29359884Read ↗

Multifocal Neuroblastoma in Rubinstein-Taybi Syndrome Harboring a Novel CREBBP Variant Identified by Paired Whole Genome Sequencing.Semantic proximity Read ↗

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

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

Dermatological findings in Rubinstein-Taybi Syndrome.Semantic proximity Read ↗

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

Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum.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 ↗

Rubinstein-Taybi syndrome with multiple pilomatricomas: The first case diagnosed by CREBBP mutation analysis.Semantic proximity Read ↗

Somatic and germ‐line mosaicism in Rubinstein–Taybi syndromeSemantic proximity Read ↗

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

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

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