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Article

Candidate genes for congenital diaphragmatic hernia from animal models: sequencing of FOG2 and PDGFRalpha reveals rare variants in diaphragmatic hernia patients.

European journal of human genetics : EJHG - 1 Sept 2007

Bleyl S B, Moshrefi A, Shaw G M, Saijoh Y, Schoenwolf G C, Pennacchio L A, Slavotinek A M

Abstract excerpt

Congenital diaphragmatic hernia (CDH) is a common, life threatening birth defect. Although there is strong evidence implicating genetic factors in its pathogenesis, few causative genes have been identified, and in isolated CDH, only one de novo, nonsense mutation has been reported in FOG2 in a fe...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hernia, Diaphragmatic

Share to Hernias, Diaphragmatic, Congenital

Share to Mice, Inbred C57BL

Share to Receptor, Platelet-Derived Growth Factor alpha

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Source

Identifiers

PMID: 17568391
DOI: 10.1038/sj.ejhg.5201872

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17568391-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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