Differential Diagnosis and a Novel Mutation in Birt-Hogg-Dubé Syndrome: Insights from 2 Cases

Lingfang Tu; Yuan Ye; Jianya Zhou; Zhijie Pan

doi:10.12659/AJCR.947530

29 June 2025 : Case report China

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

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Figure 4 Renal MRI revealed multiple renal cysts of a 57-year-old Chinese womanMultiple kidney cysts were shown on the coronal scans (A), and transverse scans of renal MRI (B). (White arrows indicate kidney cysts).

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Differential Diagnosis and a Novel Mutation in Birt-Hogg-Dubé Syndrome: Insights from 2 Cases

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