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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2017
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5220607/ https://www.ncbi.nlm.nih.gov/pubmed/28069055 http://dx.doi.org/10.1186/s40880-016-0172-5 |