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. 2013 Sep;12(3):355-6.
doi: 10.1007/s10689-013-9679-y.

Birt-Hogg-Dubé syndrome

Maria F Czyzyk-Krzeska  1 , Francis X McCormack
Affiliations

Birt-Hogg-Dubé syndrome

Maria F Czyzyk-Krzeska et al. Fam Cancer. 2013 Sep.
No abstract available

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References

    1. Schmidt LS, Nickerson ML, Warren MB, et al. Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome. Am J Hum Genet. 2005;76:1023–1033. - PMC - PubMed
    1. Nickerson ML, Warren MB, Toro JR, et al. Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome. Cancer Cell. 2002;2:157–164. - PubMed
    1. Vocke CD, Yang Y, Pavlovich CP, et al. High frequency of somatic frameshift BHD gene mutations in Birt-Hogg-Dubé-associated renal tumors. J Natl Cancer Inst. 2005;97:931–9315. - PubMed
    1. Nookala RK, Langemeyer L, Pacitto A, et al. Crystal structure of folliculin reveals a hidDENN function in genetically inherited renal cancer. Open Biol. 2012;2:120071. doi:10.1098/rsob. 120071. - PMC - PubMed
    1. Nahorski MS, Seabra L, Straatman-Iwanowska A, et al. Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis. Hum Mol Genet. 2012;21:5268–5279. - PMC - PubMed

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