Article

The founder missense mutation of<i>WFDC2</i>in Koreans leads to severe respiratory distress accompanied by bronchiectasis and rhinosinusitis

2024-11-18

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> Chronic airway diseases like cystic fibrosis (CF) and primary ciliary dyskinesia (PCD) pose substantial clinical challenges. This study explores the p.C97W variant in WFDC2 , proposed as a new genetic origin of respiratory distress, especially among Koreans. <h4>Methods</h4> Whole-exome/genome sequencing (WES/WGS) were performed on 64 patients from 62 families presenting with...

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Literature Corpus work: d808cf26-f672-567d-a6b5-913e8bcabd5e
DOI: 10.1101/2024.11.16.24317083

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