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Clinical Manifestations of Chinese BHD Patients Carrying Frequent FLCN Mutations†
| Manifestations | c.1285dupC or c.1285delC | c.1579_1580insA | c.469_471delTTC | ΔE9–14 |
|---|---|---|---|---|
| PTX | 46 | 11 | 12 | 14 |
| Skin | 11 | 3 | 0 | 6 |
| Renal tumour | 0 | 0 | 0 | 0 |
Note: †Observed more than 5 times are listed.
Abbreviations: BHD, Birt–Hogg–Dubé syndrome; PTX, pneumothorax.
