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Article

Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next-generation sequencing.

Prenatal diagnosis - 1 Aug 2018

Kammoun Molka, Souche Erika, Brady Paul, Ding Jia, Cosemans Nele, Gratacos Eduard, Devriendt Koen, Eixarch Elisenda, Deprest Jan, Vermeesch Joris Robert

Abstract excerpt

BACKGROUND: Congenital diaphragmatic hernia (CDH) is characterized by a defective closure of the diaphragm occurring as an isolated defect in 60% of cases. Lung size, liver herniation, and pulmonary circulation are major prognostic indices. Isolated CDH genetics is heterogeneous and poorly understood. Whether genetic lesions are also outcome determinants has never been explored. OBJECTIVES: To identify isolated...

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Topics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29966037
DOI: 10.1002/pd.5327

Genes

CTBP2
EYA1
GATA4
GATA5
LBR
MMP14
MYOD1
NSD1
PBX1
TBX1
TBX5
ZFPM2

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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