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Birt-Hogg-Dube Syndrome Presenting As Multiple Oncocytic Parotid Tumors

Overview
Journal Hered Cancer Clin Pract
Publisher Biomed Central
Specialty Oncology
Date 2012 Oct 12
PMID 23050938
Citations 14
Authors
Noralane M Lindor
Jan Kasperbauer
Jean E Lewis
Mark Pittelkow
Affiliations
Soon will be listed here.
Abstract

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 bilateral parotid gland tumors, who was subsequently diagnosed with Birt-Hogg-Dubé syndrome.

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