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Article

Understanding the role of Tbx1 as a candidate gene for 22q11.2 deletion syndrome.

Current allergy and asthma reports - 1 Dec 2013

Gao Shan, Li Xiao, Amendt Brad A

Abstract excerpt

22q11.2 deletion syndrome (22q11.2DS) is caused by a commonly occurring microdeletion on chromosome 22. Clinical findings include cardiac malformations, thymic and parathyroid hypoplasia, craniofacial dysmorphisms, and dental defects. These phenotypes are due mainly to abnormal development of the pharyngeal apparatus. Targeted deletion studies in mice and analysis of naturally occurring mutations in humans have...

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Identifiers

PMID: 23996541
DOI: 10.1007/s11882-013-0384-6
PMCID: PMC3840116

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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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Understanding the role of Tbx1 as a candidate gene for 22q11.2 deletion syndrome.PMID 23996541Read ↗

22q11 deletion syndrome: a role for TBX1 in pharyngeal and cardiovascular development.Semantic proximity Read ↗

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

Inactivation of Tbx1 in the pharyngeal endoderm results in 22q11DS malformations.Semantic proximity Read ↗

The del22q11.2 candidate gene Tbx1 regulates branchiomeric myogenesis.Semantic proximity Read ↗

Craniofacial Phenotypes and Genetics of DiGeorge SyndromeSemantic proximity Read ↗

The 22q11.2 deletion syndrome.Semantic proximity Read ↗

The 22q11 deletion syndrome candidate gene Tbx1 determines thyroid size and positioningSemantic proximity Read ↗

Reduced dosage of Kmt2d modifies Tbx1 haploinsufficiency toward phenotypes of 22q11.2DS.Semantic proximity Read ↗

Chordin is a modifier of tbx1 for the craniofacial malformations of 22q11 deletion syndrome phenotypes in mouse.Semantic proximity Read ↗

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The Genetics and Epigenetics of 22q11.2 Deletion SyndromeSemantic proximity Read ↗

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