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Article

Pathogenesis of congenital diaphragmatic hernia: additional clues regarding the involvement of the endothelin system.

American journal of medical genetics. Part A - 1 Jan 2014

Mesdag Violette, Andrieux Joris, Coulon Capucine, Pennaforte Thomas, Storme Laurent, Manouvrier-Hanu Sylvie, Petit Florence

Abstract excerpt

Congenital diaphragmatic hernia (CDH) has an incidence of around 1/3,000 births. The pathogenesis of this developmental anomaly remains largely unknown and the description of small chromosomal imbalances in cases of CDH is of major interest for the identification of candidate genes. We report on a tandem 4q31.23 triplication encompassing the EDNRA gene identified by array-CGH in a male presenting an isolated left...

Read the complete abstract on PubMed

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Share to Chromosomes, Human, Pair 4
Share to Comparative Genomic Hybridization

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hernias, Diaphragmatic, Congenital

Share to Infant, Newborn

Share to Phenotype

Share to Receptor, Endothelin A

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Source

Identifiers

PMID: 24352915
DOI: 10.1002/ajmg.a.36216

Genes

EDNRA

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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