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Article

Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein–Taybi syndrome detected by aCGH

18 Aug 2010

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 20717166
DOI: 10.1038/ejhg.2010.121

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein–Taybi syndrome detected by aCGHPMID 20717166Read ↗

Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene.Semantic proximity Read ↗

Rubinstein-Taybi syndrome (CREBBP, EP300).Semantic proximity Read ↗

Rubinstein-Taybi syndrome: clinical and molecular overview.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 ↗

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

High frequency of mosaic CREBBP deletions in Rubinstein–Taybi syndrome patients and mapping of somatic and germ-line breakpointsSemantic proximity Read ↗

Rubinstein Taybi Syndrome in an Indian Child due to EP300 Gene Mutation.Semantic proximity Read ↗

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.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 ↗

Rubinstein-Taybi syndrome in Chinese population with four novel mutations.Semantic proximity Read ↗

Further case of Rubinstein–Taybi syndrome due to a deletion in EP300Semantic proximity Read ↗

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