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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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| Hlavní autoři: | , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
BioMed Central
2012
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| Témata: | |
| On-line přístup: | 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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