Birt–Hogg–Dubé syndrome

Birt–Hogg–Dubé syndrome (BHD) is a rare inherited autosomal dominant disorder caused by germline mutations in the tumour suppressor gene FLCN, encoding the protein folliculin. Its clinical expression typically includes multiple pulmonary cysts, recurrent spontaneous pneumothoraces, cutaneous fibrofo...

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Detalles Bibliográficos
Autores principales: Daccord, Cécile, Good, Jean-Marc, Morren, Marie-Anne, Bonny, Olivier, Hohl, Daniel, Lazor, Romain
Formato: Online Artículo Texto
Lenguaje:English
Publicado: European Respiratory Society 2020
Materias:
Series
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9489184/
https://www.ncbi.nlm.nih.gov/pubmed/32943413
http://dx.doi.org/10.1183/16000617.0042-2020

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