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Article

Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia.

Journal of medical genetics - 1 Mar 2014

Yu Lan, Bennett James T, Wynn Julia, Carvill Gemma L, Cheung Yee Him, Shen Yufeng, Mychaliska George B, Azarow Kenneth S, Crombleholme Timothy M, Chung Dai H, Potoka Douglas, Warner Brad W, Bucher Brian, Lim Foong-Yen, Pietsch John, Stolar Charles, Aspelund Gudrun, Arkovitz Marc S, Mefford Heather, Chung Wendy K

Abstract excerpt

BACKGROUND: Congenital diaphragmatic hernia (CDH) is a common birth defect affecting 1 in 3000 births. It is characterised by herniation of abdominal viscera through an incompletely formed diaphragm. Although chromosomal anomalies and mutations in several genes have been implicated, the cause for most patients is unknown. METHODS: We used whole exome sequencing in two families with CDH and congenital heart...

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Share to Amino Acid Sequence
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to GATA6 Transcription Factor

Share to Hernia, Diaphragmatic

Share to Hernias, Diaphragmatic, Congenital

Share to Sequence Alignment

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Source

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Identifiers

PMID: 24385578
DOI: 10.1136/jmedgenet-2013-101989
PMCID: PMC3955383

Genes

GATA6

Variants

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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