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Article

DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 gene.

European journal of human genetics : EJHG - 1 Apr 2003

Conti Emanuela, Grifone Nicoletta, Sarkozy Anna, Tandoi Caterina, Marino Bruno, Digilio Maria Cristina, Mingarelli Rita, Pizzuti Antonio, Dallapiccola Bruno

Abstract excerpt

The role of the 22q11 region genes, and among them TBX1, in nonsyndromic conotruncal defects (CTDs) is still unclear. Mice hemizygous at the Tbx1 locus show a remarkable incidence of heart outflow tract anomalies, of the same type commonly found in DiGeorge/Velo-cardio-facial syndrome (DGS/VCFS)....

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Share to Chromosomes, Human, Pair 22
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12700609
DOI: 10.1038/sj.ejhg.5200956

Genes

TBX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12700609-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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