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Article

Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP.

Journal of medical genetics - 1 Jul 2002

Bartsch O, Locher K, Meinecke P, Kress W, Seemanová E, Wagner A, Ostermann K, Rödel G

Abstract excerpt

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Topics

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Share to Acetyltransferases
Share to Codon
Share to CREB-Binding Protein
Share to Histone Acetyltransferases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Protein Structure, Secondary

Share to Rubinstein-Taybi Syndrome

Share to Saccharomyces cerevisiae Proteins

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Source

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Identifiers

PMID: 12114483
DOI: 10.1136/jmg.39.7.496
PMCID: PMC1735164

Genes

CREBBP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP.PMID 12114483Read ↗

A novel mutation c.4003 G>C in the CREBBP gene in an adult female with Rubinstein-Taybi syndrome presenting with subtle dysmorphic features.Semantic proximity Read ↗

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

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

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

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

Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoireSemantic proximity Read ↗

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

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 ↗

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

A boy with classical Rubinstein-Taybi syndrome but no detectable mutation in the CREBBP and EP300 genes.Semantic proximity Read ↗

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