Birt-Hogg-Dubé Syndrome: Two Patients With Different Initial Presentations

Birt-Hogg-Dubé syndrome (BHD) is a rare genetic disorder caused by germline mutations in the tumor suppressor folliculin gene (FLCN). This condition is characterized by benign skin hamartomas, pulmonary cysts, spontaneous pneumothorax, and an increased risk for developing kidney tumors which range f...

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Detalles Bibliográficos
Autores principales: Bakhati, Bibek, Perez Del Nogal, Genesis, Salinas, Ivania, Bajaj, Kelash
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9629874/
https://www.ncbi.nlm.nih.gov/pubmed/36348850
http://dx.doi.org/10.7759/cureus.30578

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9629874/
https://www.ncbi.nlm.nih.gov/pubmed/36348850
http://dx.doi.org/10.7759/cureus.30578

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