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Article

Congenital diaphragmatic hernias: from genes to mechanisms to therapies.

Disease models & mechanisms - 1 Aug 2017

Kardon Gabrielle, Ackerman Kate G, McCulley David J, Shen Yufeng, Wynn Julia, Shang Linshan, Bogenschutz Eric, Sun Xin, Chung Wendy K

Abstract excerpt

Congenital diaphragmatic hernias (CDHs) and structural anomalies of the diaphragm are a common class of congenital birth defects that are associated with significant morbidity and mortality due to associated pulmonary hypoplasia, pulmonary hypertension and heart failure. In ∼30% of CDH patients, genomic analyses have identified a range of genetic defects, including chromosomal anomalies, copy number variants and...

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Source

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Identifiers

PMID: 28768736
DOI: 10.1242/dmm.028365
PMCID: PMC5560060

Genes

GATA4
ZFPM2

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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