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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley & Sons, Ltd
2020
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| Materias: | |
| 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 |