The founder missense mutation of WFDC2 leads to severe respiratory distress accompanied by bronchiectasis and rhinosinusitis
Jae Won Roh, Jiyoung Oh, Se Jin Kim, Ji Won Hong, Jiyeon Ohk, Hyo Sup Shim, Hyung‐Ju Cho, Ala Woo, Song Yee Kim, Young Ae Kang, Hosung Jung, Kyung Won Kim, Moo Suk Park, Heon Yung Gee
This study identifies a novel WFDC2 mutation causing severe respiratory disease with features similar to cystic fibrosis and primary ciliary dyskinesia in Korean patients.
medRxiv · Nov 16, 2024 · PreprintGenetic & Genomic Medicine