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Article

The del22q11.2 candidate gene Tbx1 regulates branchiomeric myogenesis.

Human molecular genetics - 15 Nov 2004

Kelly Robert G, Jerome-Majewska Loydie A, Papaioannou Virginia E

Abstract excerpt

Formation and remodeling of the pharyngeal arches play central roles in craniofacial development. TBX1, encoding a T-box-containing transcription factor, is the major candidate gene for del22q11.2 (DiGeorge or velo-cardio-facial) syndrome, characterized by craniofacial defects, thymic hypoplasia, cardiovascular anomalies, velopharyngeal insufficiency and skeletal muscle hypotonia. Tbx1 is expressed in pharyngeal...

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Source

Identifiers

PMID: 15385444
DOI: 10.1093/hmg/ddh304

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.

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The del22q11.2 candidate gene Tbx1 regulates branchiomeric myogenesis.PMID 15385444Read ↗

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Dissecting contiguous gene defects: TBX1.Semantic proximity Read ↗

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

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

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