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Article

Haploinsufficiency of TAB2 causes congenital heart defects in humans.

American journal of human genetics - 11 Jun 2010

Thienpont Bernard, Zhang Litu, Postma Alex V, Breckpot Jeroen, Tranchevent Léon-Charles, Van Loo Peter, Møllgård Kjeld, Tommerup Niels, Bache Iben, Tümer Zeynep, van Engelen Klaartje, Menten Björn, Mortier Geert, Waggoner Darrel, Gewillig Marc, Moreau Yves, Devriendt Koen, Larsen Lars Allan

Abstract excerpt

Congenital heart defects (CHDs) are the most common major developmental anomalies and the most frequent cause for perinatal mortality, but their etiology remains often obscure. We identified a locus for CHDs on 6q24-q25. Genotype-phenotype correlations in 12 patients carrying a chromosomal deletion on 6q delineated a critical 850 kb region on 6q25.1 harboring five genes. Bioinformatics prioritization of candidate...

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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: 20493459
DOI: 10.1016/j.ajhg.2010.04.011
PMCID: PMC3032066

Genes

TAB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Haploinsufficiency of TAB2 causes congenital heart defects in humans.PMID 20493459Read ↗

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