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Article

Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein–Taybi syndrome

16 Jun 2006

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 16783566
DOI: 10.1007/s00439-006-0215-0

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Related research

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Click a neighbor to travelStep 1 · 12 closest

Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein–Taybi syndromePMID 16783566Read ↗

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

Duplication of the Rubinstein-Taybi region on 16p13.3 is associated with a distinctive phenotype.Semantic proximity Read ↗

A microduplication of the Rubinstein-Taybi region on 16p13.3 in a girl with a bilateral complete cleft lip and palate and severe mental retardation.Semantic proximity Read ↗

Deletion at chromosome 16p13.3 as a cause of Rubinstein-Taybi syndrome: clinical aspects.Semantic proximity Read ↗

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

Phenotypic expansion of the interstitial 16p13.3 duplication: a case report and review of the literature.Semantic proximity Read ↗

A patient with a de-novo deletion 3p25.3 and features overlapping with Rubinstein-Taybi syndrome.Semantic proximity Read ↗

Clinical Phenotype and Genetic Characteristics of 5 Cases with Rubinstein‑Taybi SyndromeSemantic proximity Read ↗

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome.Semantic proximity Read ↗

Rubinstein–Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: A contiguous gene syndrome?Semantic proximity Read ↗

Rubinstein-Taybi syndrome in first cousins with different de novo mutations.Semantic proximity Read ↗

Maternally inherited autosomal dominant intellectual disability caused by 16p13.3 microduplication.Semantic proximity Read ↗

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