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Birt–Hogg–Dubé syndrome is a novel ciliopathy

19 Jun 2013

Abstract excerpt

Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant disorder where patients are predisposed to kidney cancer, lung and kidney cysts and benign skin tumors. BHD is caused by heterozygous mutations affecting folliculin (FLCN), a conserved protein that is considered a tumor suppressor. Previous research has uncovered multiple roles for FLCN in cellular physiology, yet it remains unclear how these translate to BHD...

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PMID: 23784378
DOI: 10.1093/hmg/ddt288

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