Article

Missense variants affecting the actin-binding domains of <i>PLS3</i> cause X-linked congenital diaphragmatic hernia and body wall defects

2021-07-07

Abstract excerpt

<h4>ABSTRACT</h4> Congenital diaphragmatic hernia (CDH) is a relatively common and genetically heterogeneous structural birth defect associated with high mortality and morbidity. We describe eight unrelated families with a novel X-linked condition characterized by diaphragm defects, variable anterior body wall anomalies, and/or facial dysmorphism. Using linkage analysis and whole exome or whole genome sequencing,...

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Literature Corpus work: 94bf98db-7d30-5f35-b91e-e77cf5e3cd76
DOI: 10.1101/2021.07.07.21259278

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Missense variants affecting the actin-binding domains of <i>PLS3</i> cause X-linked congenital diaphragmatic hernia and body wall defectsDOI 10.1101/2021.07.07.21259278Read

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