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Case Report of Birt–Hogg–Dubé Syndrome: Germline Mutations of FLCN Detected in Patients With Renal Cancer and Thyroid Cancer

Birt–Hogg–Dubé (BHD) is a rare autosomal dominant inherited syndrome that is characterized by the presence of fibrofolliculomas and/or trichodiscomas, pulmonary cysts, spontaneous pneumothorax, and renal tumors. Here, the 2 patients we reported with renal cell carcinomas and dermatological features...

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Dades bibliogràfiques
Publicat a:Medicine (Baltimore)
Autors principals: Dong, Li, Gao, Ming, Hao, Wei-jing, Zheng, Xiang-qian, Li, Yi-gong, Li, Xiao-long, Yu, Yang
Format: Artigo
Idioma:Inglês
Publicat: Wolters Kluwer Health 2016
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4900704/
https://ncbi.nlm.nih.gov/pubmed/27258496
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000003695
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