Exons 1-3 deletion in FLCN is associated with increased risk of pneumothorax in Chinese patients with Birt-Hogg-Dubé syndrome.
Yue WangMengru CaiXianliang JiangGuangyu LvDaiju HuGuofeng ZhangJinli LiuWei WeiJun XiaoBing ShenJay H RyuXiao-Wen HuPublished in: Orphanet journal of rare diseases (2023)
Large intragenic deletion of exons 1-3 in FLCN was identified as a local aggregation phenomenon in Feidong County, China, and was associated with a significantly higher risk of pneumothorax compared to those with point mutations.
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