Delayed diagnosis of Birt-Hogg-Dubé syndrome due to marked intrafamilial clinical variability: a case report

BACKGROUND: Birt-Hogg-Dubé syndrome is a genetic syndrome caused by mutations in the FLCN gene. The main symptoms are lung bullae and pneumothorax, benign and malignant kidney tumors, and facial fibrofolliculoma. The risk of pneumothorax is considerable between ages 20–40 years, but decreases marked...

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Detalles Bibliográficos
Autores principales: Sattler, E. C., Steinlein, O. K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5857113/
https://www.ncbi.nlm.nih.gov/pubmed/29548312
http://dx.doi.org/10.1186/s12881-018-0558-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5857113/
https://www.ncbi.nlm.nih.gov/pubmed/29548312
http://dx.doi.org/10.1186/s12881-018-0558-0

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