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Article

Detecting 22q11.2 deletion in Chinese children with conotruncal heart defects and single nucleotide polymorphisms in the haploid TBX1 locus.

BMC medical genetics - 21 Dec 2011

Xu Yue-Juan, Wang Jian, Xu Rang, Zhao Peng-Jun, Wang Xi-Ke, Sun Heng-Juan, Bao Li-Ming, Shen Jie, Fu Qi-Hua, Li Fen, Sun Kun

Abstract excerpt

BACKGROUND: Conotruncal heart defects (CTDs) are present in 75-85% of patients suffering from the 22q11.2 deletion syndrome. To date, no consistent phenotype has been consistently correlated with the 22q11.2 deletions. Genetic studies have implicated TBX1 as a critical gene in the pathogenesis of...

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Source

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Identifiers

PMID: 22185286
DOI: 10.1186/1471-2350-12-169
PMCID: PMC3259064

Genes

TBX1
CLTCL1
LZTR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22185286-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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