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Congenital diaphragmatic hernia (CDH) etiology as revealed by pathway genetics

13 Apr 2007

Abstract excerpt

Congenital diaphragmatic hernia (CDH) is a common birth defect with high mortality and morbidity. Two hundred seventy CDH patients were ascertained, carefully phenotyped, and classified as isolated (diaphragm defects alone) or complex (with additional anomalies) cases. We established different strategies to reveal CDH-critical chromosome loci and genes in humans. Candidate genes for sequencing analyses were...

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PMID: 17436295
DOI: 10.1002/ajmg.c.30132

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