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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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| Pubblicato in: | Chin J Cancer |
|---|---|
| Autori principali: | , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BioMed Central
2017
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| Soggetti: | |
| Accesso online: | 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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