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

Human genetics - 1 Sept 2005

Bartsch Oliver, Schmidt Stefanie, Richter Marion, Morlot Susanne, Seemanová Eva, Wiebe Glenis, Rasi Sasan

Abstract excerpt

Rubinstein-Taybi syndrome (RSTS) is a distinct dominant disorder characterized by short stature, typical face, broad angulated thumbs and halluces, and mental retardation. The RSTS can be caused by chromosomal microdeletions and molecular mutations in the CREBBP gene; however, relatively few mutations have been reported to date. Here, we aimed to determine the rate of point mutations and other small molecular...

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Source

Identifiers

PMID: 16021471
DOI: 10.1007/s00439-005-1331-y

Genes

CREBBP

Provenance

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Related research

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DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS.PMID 16021471Read ↗

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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