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Article

De novo copy number variants are associated with congenital diaphragmatic hernia.

Journal of medical genetics - 1 Oct 2012

Yu Lan, Wynn Julia, Ma Lijiang, Guha Saurav, Mychaliska George B, Crombleholme Timothy M, Azarow Kenneth S, Lim Foong Yen, Chung Dai H, Potoka Douglas, Warner Brad W, Bucher Brian, LeDuc Charles A, Costa Katherine, Stolar Charles, Aspelund Gudrun, Arkovitz Marc S, Chung Wendy K

Abstract excerpt

BACKGROUND: Congenital diaphragmatic hernia (CDH) is a common birth defect with significant morbidity and mortality. Although the aetiology of CDH remains poorly understood, studies from animal models and patients with CDH suggest that genetic factors play an important role in the development of CDH. Chromosomal anomalies have been reported in CDH. METHODS: In this study, the authors investigated the frequency of...

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Source

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Identifiers

PMID: 23054247
DOI: 10.1136/jmedgenet-2012-101135
PMCID: PMC3696999

Genes

BID
BNC1
FGF6
FOXC1
FOXF2
PDGFA
SOX7
TBX1
AGT
GATA4
HLX
HOMER2
HYLS1
KCNA2
LBR
LMNA
MYOG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

De novo copy number variants are associated with congenital diaphragmatic hernia.PMID 23054247Read ↗

Systematic analysis of copy number variation associated with congenital diaphragmatic hernia.Semantic proximity Read ↗

The Role of De Novo Variants in Patients with Congenital Diaphragmatic Hernia.Semantic proximity Read ↗

Genetic causes of congenital diaphragmatic hernia.Semantic proximity Read ↗

Underlying genetic etiologies of congenital diaphragmatic herniaSemantic proximity Read ↗

Management of Congenital Diaphragmatic Hernia (CDH): Role of Molecular Genetics.Semantic proximity Read ↗

Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants.Semantic proximity Read ↗

The genetics of congenital diaphragmatic hernia.Semantic proximity Read ↗

Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next-generation sequencing.Semantic proximity Read ↗

Molecular pathogenesis of congenital diaphragmatic hernia revealed by exome sequencing, developmental data, and bioinformatics.Semantic proximity Read ↗

Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDHSemantic proximity Read ↗

Deep whole genome sequencing of multiple proband tissues and parental blood reveals the complex genetic etiology of congenital diaphragmatic herniasSemantic proximity Read ↗

Developmental and genetic aspects of congenital diaphragmatic hernia.Semantic proximity Read ↗

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