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Article

Single nucleotide polymorphism discovery in TBX1 in individuals with and without 22q11.2 deletion syndrome.

Birth defects research. Part A, Clinical and molecular teratology - 1 Jan 2010

Heike Carrie L, Starr Jacqueline R, Rieder Mark J, Cunningham Michael L, Edwards Karen L, Stanaway Ian B, Crawford Dana C

Abstract excerpt

BACKGROUND: Children with 22q11.2 deletion syndrome (22q11.2DS) have a wide range of clinical features. TBX1 has been proposed as a candidate gene for some of the features in this condition. Polymorphisms in the nondeleted TBX1, which may affect the function of the sole TBX1 gene in individuals with the 22q11.2DS, may be a key to understanding the phenotypic variability among individuals with a shared deletion....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 19645056
DOI: 10.1002/bdra.20604
PMCID: PMC4535433

Genes

TBX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Single nucleotide polymorphism discovery in TBX1 in individuals with and without 22q11.2 deletion syndrome.PMID 19645056Read ↗

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