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Article

Systematic analysis of copy number variation associated with congenital diaphragmatic hernia.

Proceedings of the National Academy of Sciences of the United States of America - 15 May 2018

Zhu Qihui, High Frances A, Zhang Chengsheng, Cerveira Eliza, Russell Meaghan K, Longoni Mauro, Joy Maliackal P, Ryan Mallory, Mil-Homens Adam, Bellfy Lauren, Coletti Caroline M, Bhayani Pooja, Hila Regis, Wilson Jay M, Donahoe Patricia K, Lee Charles

Abstract excerpt

Congenital diaphragmatic hernia (CDH), characterized by malformation of the diaphragm and hypoplasia of the lungs, is one of the most common and severe birth defects, and is associated with high morbidity and mortality rates. There is growing evidence demonstrating that genetic factors contribute to CDH, although the pathogenesis remains largely elusive. Single-nucleotide polymorphisms have been studied in recent...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Hernias, Diaphragmatic, Congenital

Share to Polymorphism, Single Nucleotide

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Source

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Identifiers

PMID: 29712845
DOI: 10.1073/pnas.1714885115
PMCID: PMC5960281

Genes

HLX
LHX1

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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