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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Detalles Bibliográficos
Autores principales: Li, Teng, Ning, Xianghui, He, Qun, Gong, Kan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
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

Internet

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

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