Article

A novel nonsense variant of the KAT6B gene associated with cystic hygroma in fetus

2024-06-28

Abstract excerpt

<title>Abstract</title> <p>Background Cystic hygroma is a vascular anomaly associated with lymphatic malformations and is relatively common in prenatal ultrasonography, presenting as thickened nuchal translucency(NT). However, the underlying molecular mechanism of cystic hygroma is complex and not yet completely understood. Methods Trio-based whole exome sequencing(WES) was performed on a fetus with thickened N...

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Literature Corpus work: 19d11ba9-0146-582b-b5d2-463a4443af81
DOI: 10.21203/rs.3.rs-4544246/v1

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