29 June 2025
: Case report 
Differential Diagnosis and a Novel Mutation in Birt-Hogg-Dubé Syndrome: Insights from 2 Cases
Challenging differential diagnosis, Unusual setting of medical care, Rare disease
Lingfang Tu ACE 1, Yuan Ye BEG 1, Jianya Zhou CF 1, Zhijie Pan AD 1*DOI: 10.12659/AJCR.947530
Am J Case Rep 2025; 26:e947530
Figure 5 WES analysis identified mutation in FLCN geneWES revealed a novel mutation of FLCN gene in exon 12 of a 57-year-old Chinese woman (A). WES identified a mutation of FLCN gene in exon 14 of a 58-year-old Chinese woman (B).