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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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Detalhes bibliográficos
Main Authors: Lindor, Noralane M, Kasperbauer, Jan, Lewis, Jean E, Pittelkow, Mark
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3492097/
https://ncbi.nlm.nih.gov/pubmed/23050938
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1897-4287-10-13
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