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Article

TBX2 gene duplication associated with complex heart defect and skeletal malformations.

American journal of medical genetics. Part A - 1 Aug 2010

Radio Francesca Clementina, Bernardini Laura, Loddo Sara, Bottillo Irene, Novelli Antonio, Mingarelli Rita, Dallapiccola Bruno

Abstract excerpt

We report on a patient with mild mental retardation, prenatal onset growth retardation, cerebellar hypoplasia, and complex heart defect including: interventricular septal defect, patent foramen ovale, aortic coarctation, tricuspid valve insufficiency, mitral valve stenosis, and minor skeletal anomalies with hypo-aplasia of the distal phalanges. A SNP-array analysis detected a de novo duplication of 17q23.2,...

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Source

Identifiers

PMID: 20635360
DOI: 10.1002/ajmg.a.33506

Genes

TBX2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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TBX2 gene duplication associated with complex heart defect and skeletal malformations.PMID 20635360Read ↗

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Craniofacial Phenotypes and Genetics of DiGeorge SyndromeSemantic proximity Read ↗

Dissecting contiguous gene defects: TBX1.Semantic proximity Read ↗

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