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

doi:10.1002/ajmg.a.38626

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

Community

Back to search

Article

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

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

Menke Leonie A, Gardeitchik Thatjana, Hammond Peter, Heimdal Ketil R, Houge Gunnar, Hufnagel Sophia B, Ji Jianling, Johansson Stefan, Kant Sarina G, Kinning Esther, Leon Eyby L, Newbury-Ecob Ruth, Paolacci Stefano, Pfundt Rolph, Ragge Nicola K, Rinne Tuula, Ruivenkamp Claudia, Saitta Sulagna C, Sun Yu, Tartaglia Marco, Terhal Paulien A, van Essen Anthony J, Vigeland Magnus D, Xiao Bing, Hennekam Raoul C

Abstract excerpt

In 2016, we described that missense variants in parts of exons 30 and 31 of CREBBP can cause a phenotype that differs from Rubinstein-Taybi syndrome (RSTS). Here we report on another 11 patients with variants in this region of CREBBP (between bp 5,128 and 5,614) and two with variants in the homologous region of EP300. None of the patients show characteristics typical for RSTS. The variants were detected by exome...

Read the complete abstract on PubMed

Topics

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

Share to CREB-Binding Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to E1A-Associated p300 Protein

Share to Facies

Share to Genetic Association Studies

Share to Imaging, Three-Dimensional

Share to Infant

Share to Models, Anatomic

Share to Rubinstein-Taybi Syndrome

Source

Open in PubMed

Identifiers

PMID: 29460469
DOI: 10.1002/ajmg.a.38626

Genes

CREBBP

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

Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.PMID 29460469Read ↗

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

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

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

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

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 ↗

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

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

Identification of de-novo CREBBP gene variants in patients with Rubinstein-Taybi syndrome.Semantic proximity Read ↗

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