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Article

Genetic modifiers of the physical malformations in velo-cardio-facial syndrome/DiGeorge syndrome.

Developmental disabilities research reviews - 1 Jan 2008

Aggarwal Vimla S, Morrow Bernice E

Abstract excerpt

Velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS), the most common micro-deletion disorder in humans, is characterized by craniofacial, parathyroid, and thymic defects as well as cardiac outflow tract malformations. Most patients have a similar hemizygous 3 million base pair deletion on 22q11.2. Studies in mouse have shown that Tbx1, a T-box containing transcription factor present on the deleted region, is...

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Source

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Identifiers

PMID: 18636633
DOI: 10.1002/ddrr.4
PMCID: PMC2818567

Genes

TBX1

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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Research trail→

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Genetic modifiers of the physical malformations in velo-cardio-facial syndrome/DiGeorge syndrome.PMID 18636633Read ↗

Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosageSemantic proximity Read ↗

Craniofacial Phenotypes and Genetics of DiGeorge SyndromeSemantic proximity Read ↗

TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome.Semantic proximity Read ↗

DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1.Semantic proximity Read ↗

Beta-catenin deficiency causes DiGeorge syndrome-like phenotypes through regulation of Tbx1.Semantic proximity Read ↗

Mice overexpressing genes from the 22q11 region deleted in velo-cardio-facial syndrome/DiGeorge syndrome have middle and inner ear defects.Semantic proximity Read ↗

The 22q11 deletion: DiGeorge and velocardiofacial syndromes and the role of TBX1.Semantic proximity Read ↗

Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.Semantic proximity Read ↗

Dissecting contiguous gene defects: TBX1.Semantic proximity Read ↗

MOZ regulates the Tbx1 locus, and Moz mutation partially phenocopies DiGeorge syndrome.Semantic proximity Read ↗

Mutation analysis of <i>TBX1</i> in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defectsSemantic proximity Read ↗

The zebrafish van gogh mutation disrupts tbx1, which is involved in the DiGeorge deletion syndrome in humans.Semantic proximity Read ↗

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