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Article

Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia.

Journal of medical genetics - 1 May 2011

Wat Margaret J, Veenma Danielle, Hogue Jacob, Holder Ashley M, Yu Zhiyin, Wat Jeanette J, Hanchard Neil, Shchelochkov Oleg A, Fernandes Caraciolo J, Johnson Anthony, Lally Kevin P, Slavotinek Anne, Danhaive Olivier, Schaible Thomas, Cheung Sau Wai, Rauen Katherine A, Tonk Vijay S, Tibboel Dick, de Klein Annelies, Scott Daryl A

Abstract excerpt

BACKGROUND: Congenital diaphragmatic hernia (CDH) is a life threatening birth defect. Most of the genetic factors that contribute to the development of CDH remain unidentified. OBJECTIVE: To identify genomic alterations that contribute to the development of diaphragmatic defects. METHODS: A cohort of 45 unrelated patients with CDH or diaphragmatic eventrations was screened for genomic alterations by array...

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Source

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Identifiers

PMID: 21525063
DOI: 10.1136/jmg.2011.089680
PMCID: PMC3227222

Genes

FZD2
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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Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia.PMID 21525063Read ↗

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