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Article

Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome.

Journal of biosciences - 1 Jun 2010

Sharma Neeti, Mali Avinash M, Bapat Sharmila A

Abstract excerpt

Rubinstein-Taybi syndrome (RSTS), a developmental disorder comprising abnormalities that include mental retardation, an unusual facial appearance, broad thumbs and big toes is frequently associated with molecular lesions in the CREB-binding protein gene, CREBBP. The objective of the present study was to identify and analyse CREBBP mutations in Indian RSTS patients on which there are no data. Direct sequencing of...

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Topics

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Source

Identifiers

PMID: 20689175
DOI: 10.1007/s12038-010-0023-5

Genes

CREBBP

Variants

rs130002

Provenance

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

Related research

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Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome.PMID 20689175Read ↗

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

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

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

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

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

DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS.Semantic proximity Read ↗

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