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Article

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

Clinical dysmorphology - 1 Oct 2016

Hamilton Mark J, Newbury-Ecob Ruth, Holder-Espinasse Muriel, Yau Shu, Lillis Suzanne, Hurst Jane A, Clement Emma, Reardon William, Joss Shelagh, Hobson Emma, Blyth Moira, Al-Shehhi Maryam, Lynch Sally A, Suri Mohnish

Abstract excerpt

Rubinstein-Taybi syndrome (RTS) is an autosomal dominant neurodevelopmental disorder characterized by growth deficiency, broad thumbs and great toes, intellectual disability and characteristic craniofacial appearance. Mutations in CREBBP account for around 55% of cases, with a further 8% attributed to the paralogous gene EP300. Comparatively few reports exist describing the phenotype of Rubinstein-Taybi because...

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Source

Identifiers

PMID: 27465822
DOI: 10.1097/MCD.0000000000000143

Genes

CREBBP

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

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum.PMID 27465822Read ↗

Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome.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 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum.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 molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene.Semantic proximity Read ↗

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

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

First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant.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 ↗

Rubinstein-Taybi syndrome: clinical and molecular overview.Semantic proximity Read ↗

EP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patients.Semantic proximity Read ↗

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

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