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Birt-Hogg-Dubé Syndrome: Diagnostic Journey of Three Cases from Skin to Gene

1 Jan 2022

Abstract excerpt

Birt-Hogg-Dube syndrome (BHDS) is a rare disorder characterized by the triad of cutaneous lesions, renal tumors, lung cysts and inactivation of the gene folliculin (FLCN). Here, we present three female patients diagnosed with BHDS. First case a 55-year-old female had flesh moles histopathology compatible with angiofibroma, multiple cysts in the lung and kidneys, FLCN gene mutations ('c.1285dupC [p.His429Profs*]'...

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PMID: 35221599
DOI: 10.5021/ad.2022.34.1.66

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