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Underlying genetic etiologies of congenital diaphragmatic hernia

17 Jan 2022

Abstract excerpt

Congenital diaphragmatic hernia (CDH) is often detectable prenatally. Advances in genetic testing have made it possible to obtain a molecular diagnosis in many fetuses with CDH. Here, we review the aneuploidies, copy number variants (CNVs), and single genes that have been clearly associated with CDH. We suggest that array-based CNV analysis, with or without a chromosome analysis, is the optimal test for...

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PMID: 35037267
DOI: 10.1002/pd.6099

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