Article
Novel FLCN mutations in Birt-Hogg-Dubé patients and potential intervention of FLCN mRNA.
Therapeutic advances in respiratory disease - 1 Jan 2026
Bai Wenxue, Guo Mengyao, Hua Lijuan, Wang Xuezhao, Chen Lirong, Liu Bingyi, Wang Yi, Zhou Ying, Wang Qi, Zhang Ni, Chen Lan, Wu Min, Li Zongzhe, Xie Min
Abstract excerpt
BACKGROUND: Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant disorder caused by folliculin (FLCN) gene mutations, with ethnically heterogeneous mutational spectra. Current management is primarily supportive and lacks curative therapies. OBJECTIVES: This study aimed to characterize the clinical features and genetic variants in two distinct Chinese families with BHD syndrome and to preliminarily explore the...
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