Birt–Hogg–Dubé syndrome is a novel ciliopathy

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 rese...

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Autors principals: Luijten, Monique N.H., Basten, Sander G., Claessens, Tijs, Vernooij, Marigje, Scott, Claire L., Janssen, Renske, Easton, Jennifer A., Kamps, Miriam A.F., Vreeburg, Maaike, Broers, Jos L.V., van Geel, Michel, Menko, Fred H., Harbottle, Richard P., Nookala, Ravi K., Tee, Andrew R., Land, Stephen C., Giles, Rachel H., Coull, Barry J., van Steensel, Maurice A.M.
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2013
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Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3792695/
https://ncbi.nlm.nih.gov/pubmed/23784378
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddt288
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