Novel germline mutations in FLCN gene identified in two Chinese patients with Birt–Hogg–Dubé syndrome
Abstract Birt–Hogg–Dubé (BHD) syndrome, a hereditary renal cancer syndrome caused by mutations in the folliculin (FLCN) gene, is characterized by the presence of fibrofolliculomas, pulmonary cysts, spontaneous pneumothorax, and renal cell carcinoma (RCC). Few BHD syndrome cases have been reported in...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2017-01-01
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| Series: | Chinese Journal of Cancer |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s40880-016-0172-5 |