Exons 1–3 deletion in FLCN is associated with increased risk of pneumothorax in Chinese patients with Birt-Hogg-Dubé syndrome

Abstract Background The pathogenic variants responsible for Birt-Hogg-Dubé syndrome (BHDS) in folliculin (FLCN) gene mostly consist of point mutations. Although large intragenic deletions/duplications have been reported in several case reports, the relationship between large intragenic deletions/dup...

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Bibliographic Details

Published in:	Orphanet Journal of Rare Diseases
Main Authors:	Yue Wang, Mengru Cai, Xianliang Jiang, Guangyu Lv, Daiju Hu, Guofeng Zhang, Jinli Liu, Wei Wei, Jun Xiao, Bing Shen, Jay H. Ryu, Xiaowen Hu
Format:	Article
Language:	English
Published:	BMC 2023-05-01
Subjects:	Birt-Hogg-Dubé syndrome Exons 1–3 deletion Genotype–phenotype correlation Pneumothorax
Online Access:	https://doi.org/10.1186/s13023-023-02710-9