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Birt–Hogg–Dubé syndrome in an Indonesian patient with folliculin gene mutation

Birt–Hogg–Dubé (BHD) syndrome is a rare autosomal dominant disorder that affects the skin, kidney, and lungs. Affected individuals have an increased risk of developing multiple cysts in the lungs and a spontaneous pneumothorax. Germline mutations in the folliculin (FLCN) gene have been confirmed as...

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Detalles Bibliográficos
Autores principales: Wiyono, Wiwien Heru, Nurwidya, Fariz, Baskoro, Hario, Putra, Andika Chandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5167323/
https://www.ncbi.nlm.nih.gov/pubmed/28031834
http://dx.doi.org/10.1002/rcr2.199