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

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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Bibliographic Details
Main Authors: Jiyeon Bae, Jungwon Huh, Sung Shine Shim, Heae Surng Park, Yon Ju Ryu
Format: Article
Language:English
Published: Elsevier 2022-01-01
Series:Respiratory Medicine Case Reports
Subjects:
Birt–Hogg–Dubé syndrome
Cystic lung disease
FLCN gene
Genetic study
Pneumothorax
Online Access:http://www.sciencedirect.com/science/article/pii/S2213007122001794

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http://www.sciencedirect.com/science/article/pii/S2213007122001794

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