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Article

Variants in GATA4 are a rare cause of familial and sporadic congenital diaphragmatic hernia.

Human genetics - 1 Mar 2013

Yu Lan, Wynn Julia, Cheung Yee Him, Shen Yufeng, Mychaliska George B, Crombleholme Timothy M, Azarow Kenneth S, Lim Foong Yen, Chung Dai H, Potoka Douglas, Warner Brad W, Bucher Brian, Stolar Charles, Aspelund Gudrun, Arkovitz Marc S, Chung Wendy K

Abstract excerpt

Congenital diaphragmatic hernia (CDH) is characterized by incomplete formation of the diaphragm occurring as either an isolated defect or in association with other anomalies. Genetic factors including aneuploidies and copy number variants are important in the pathogenesis of many cases of CDH, but few single genes have been definitively implicated in human CDH. In this study, we used whole exome sequencing (WES)...

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Share to DNA Copy Number Variations
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to GATA4 Transcription Factor

Share to Hernia, Diaphragmatic

Share to Hernias, Diaphragmatic, Congenital

Share to Heterozygote

Share to Infant, Newborn

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Source

Open in PubMed Open full text

Identifiers

PMID: 23138528
DOI: 10.1007/s00439-012-1249-0
PMCID: PMC3570587

Genes

GATA4

Variants

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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