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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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Bibliographische Detailangaben
Veröffentlicht in:Chin J Cancer
Hauptverfasser: Li, Teng, Ning, Xianghui, He, Qun, Gong, Kan
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2017
Schlagworte:
Online Zugang: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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