Concurrent Germline and Somatic Mutations in FLCN and Preliminary Exploration of Its Function: A Case Report

Birt–Hogg–Dube syndrome is an autosomal dominant condition that arises from germline folliculin (FLCN) mutations. It is characterized by skin fibrofolliculomas, lung cysts, pneumothorax, and renal cancer. Here, we present the case of a 36-year-old woman with asymptomatic, multiple renal tumors and a...

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Detalles Bibliográficos
Autores principales: Wang, Tao, Yang, Yang, Feng, Huayi, Cui, Bo, Lv, Zheng, Zhao, Wenlei, Zhang, Xiangyi, Ma, Xin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Oncology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9162506/
https://www.ncbi.nlm.nih.gov/pubmed/35664771
http://dx.doi.org/10.3389/fonc.2022.877470

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9162506/
https://www.ncbi.nlm.nih.gov/pubmed/35664771
http://dx.doi.org/10.3389/fonc.2022.877470

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