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Review

Birt-Hogg-Dubé Syndrome (PDQ®): Health Professional Version

PDQ Cancer Genetics Editorial Board
In: PDQ Cancer Information Summaries [Internet]. Bethesda (MD): National Cancer Institute (US); 2002.
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Free Books & Documents
Review

Birt-Hogg-Dubé Syndrome (PDQ®): Health Professional Version

PDQ Cancer Genetics Editorial Board.
Free Books & Documents

Excerpt

This PDQ cancer information summary for health professionals provides comprehensive, peer-reviewed, evidence-based information about the genetics of Birt-Hogg-Dubé syndrome (BHD). It is intended as a resource to inform and assist clinicians who care for BHD patients. It does not provide formal guidelines or recommendations for making health care decisions.

This summary is reviewed regularly and updated as necessary by the PDQ Cancer Genetics Editorial Board, which is editorially independent of the National Cancer Institute (NCI). The summary reflects an independent review of the literature and does not represent a policy statement of NCI or the National Institutes of Health (NIH).

Keywords: Birt-Hogg-Dubé syndrome; cancer genetics.

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References

    1. Toro JR, Wei MH, Glenn GM, et al.: BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports. J Med Genet 45 (6): 321-31, 2008. - 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 2 (2): 157-64, 2002. - PubMed
    1. Birt AR, Hogg GR, Dubé WJ: Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. Arch Dermatol 113 (12): 1674-7, 1977. - PubMed
    1. Schmidt LS, Linehan WM: Molecular genetics and clinical features of Birt-Hogg-Dubé syndrome. Nat Rev Urol 12 (10): 558-69, 2015. - PMC - PubMed
    1. Boza JC, Trindade EN, Peruzzo J, et al.: Skin manifestations of obesity: a comparative study. J Eur Acad Dermatol Venereol 26 (10): 1220-3, 2012. - PubMed

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