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Hered Cancer Clin Pract. 2012 Oct 10;10(1):13. doi: 10.1186/1897-4287-10-13.

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

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Department of Health Science Research, Mayo Clinic Arizona.


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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