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Novel germline mutations in FLCN gene identified in two Chinese patients with Birt–Hogg–Dubé syndrome
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 Asian co...
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| Publicado no: | Chin J Cancer |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5220607/ https://ncbi.nlm.nih.gov/pubmed/28069055 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40880-016-0172-5 |
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