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Article

Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning.

Proceedings of the National Academy of Sciences of the United States of America - 15 Feb 2011

Fakhro Khalid A, Choi Murim, Ware Stephanie M, Belmont John W, Towbin Jeffrey A, Lifton Richard P, Khokha Mustafa K, Brueckner Martina

Abstract excerpt

Dominant human genetic diseases that impair reproductive fitness and have high locus heterogeneity constitute a problem for gene discovery because the usual criterion of finding more mutations in specific genes than expected by chance may require extremely large populations. Heterotaxy (Htx), a congenital heart disease resulting from abnormalities in left-right (LR) body patterning, has features suggesting that...

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Source

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Identifiers

PMID: 21282601
DOI: 10.1073/pnas.1019645108
PMCID: PMC3041108

Genes

GALNT11
NEK2
ROCK2
TGFBR2

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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