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.
Original language | English (US) |
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Article number | 13 |
Journal | Hereditary Cancer in Clinical Practice |
Volume | 10 |
Issue number | 1 |
DOIs | |
State | Published - Oct 10 2012 |
Keywords
- Oncocytic
- Oncocytosis
- Salivary gland
- Warthins tumor
ASJC Scopus subject areas
- Oncology
- Genetics(clinical)