Birt-Hogg-Dube syndrome presenting as multiple oncocytic parotid tumors

Mutations in FLCN cause Birt-Hogg-Dubé syndrome, an autosomal dominant disorder notable for development of cutaneous fibrofolliculomas or trichodiscomas, a variety of renal tumors, and spontaneous pneumothorax due to cystic lung changes. We present a woman referred for genetic evaluation due to bila...

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Detalles Bibliográficos
Autores principales: Lindor, Noralane M, Kasperbauer, Jan, Lewis, Jean E, Pittelkow, Mark
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3492097/
https://www.ncbi.nlm.nih.gov/pubmed/23050938
http://dx.doi.org/10.1186/1897-4287-10-13

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