A novel FLCN gene mutation causing Birt–Hogg–Dubé syndrome in a Korean family

Spontaneous pneumothorax is a common manifestation of Birt–Hogg–Dubé (BHD) syndrome, an inherited disorder caused by mutation of the folliculin (FLCN) gene. A 44-year-old female with a history of breast cancer was diagnosed with recurrent pneumothorax. Chest CT showed multiple cysts with left lung p...

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Detalles Bibliográficos
Autores principales: Bae, Jiyeon, Huh, Jungwon, Shim, Sung Shine, Park, Heae Surng, Ryu, Yon Ju
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9619165/
https://www.ncbi.nlm.nih.gov/pubmed/36324339
http://dx.doi.org/10.1016/j.rmcr.2022.101757

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