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Rare and <i>de novo</i> variants in 827 congenital diaphragmatic hernia probands implicate <i>LONP1</i> and <i>ALYREF</i> as new candidate risk genes

2021-06-04

Abstract excerpt

Congenital diaphragmatic hernia (CDH) is a severe congenital anomaly that is often accompanied by other anomalies. Although the role of genetics in the pathogenesis of CDH has been established, only a small number of disease genes have been identified. To further investigate the genetics of CDH, we analyzed de novo coding variants in 827 proband-parent trios and confirmed an overall significant enrichment of damag...

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Identifiers and source

Literature Corpus work
c2153331-c275-58ad-ab8c-de475356251a
DOI
10.1101/2021.06.01.21257928
Open publication

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Rare and <i>de novo</i> variants in 827 congenital diaphragmatic hernia probands implicate <i>LONP1</i> and <i>ALYREF</i> as new candidate risk genesDOI 10.1101/2021.06.01.21257928
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