Birt–Hogg–Dubé syndrome presenting with macroscopic pulmonary cyst formation in a 15‐year‐old

Birt–Hogg–Dubé (BHD) syndrome is a rare, autosomal dominant disorder caused by a germline mutation in the folliculin gene (17p11.2). It is characterized by benign skin lesions, renal tumours, and pulmonary cysts, with pneumothoraces seen exceptionally rarely in patients younger than 40 years. We rep...

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Detalles Bibliográficos
Autores principales: Ardolino, Luke, Silverstone, Elizabeth, Varjavandi, Vincent, Yates, Deborah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7312278/
https://www.ncbi.nlm.nih.gov/pubmed/32595975
http://dx.doi.org/10.1002/rcr2.610

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