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Article

Expanding the phenotype of duplication of the Rubinstein-Taybi region on 16p13.3.

American journal of medical genetics. Part A - 1 Dec 2009

Dallapiccola Bruno, Bernardini Laura, Novelli Antonio, Mingarelli Rita

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Share to Child, Preschool
Share to Chromosomes, Human, Pair 16
Share to Comparative Genomic Hybridization
Share to Gene Duplication

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19921635
DOI: 10.1002/ajmg.a.32662

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Expanding the phenotype of duplication of the Rubinstein-Taybi region on 16p13.3.PMID 19921635Read ↗

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 ↗

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

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

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

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

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

Mosaic tetrasomy 14pterq13.1: longitudinal study.Semantic proximity Read ↗

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

Clinical course over five decades of a woman carrying 16p13.3 microduplication.Semantic proximity Read ↗

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

Tetrasomy 21pter-q22.11: molecular, cytogenetic, and clinical findings.Semantic proximity Read ↗

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

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