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Article

Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire

24 Mar 2015

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 25805166
DOI: 10.1007/s00439-015-1542-9

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Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoirePMID 25805166Read ↗

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

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

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

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

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

Expanding the phenotype of duplication of the Rubinstein-Taybi region on 16p13.3.Semantic proximity Read ↗

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

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

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

Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder.Semantic proximity Read ↗

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 ↗

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