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Birt-Hogg-Dubé Syndrome.

Editors

In: Riegert-Johnson DL1, Boardman LA2, Hefferon T3, Roberts M4, editors.

Source

Cancer Syndromes [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 2009-.
2009 Sep 01 [updated 2009 Oct 05].

Author information

1
Mayo Clinic College of Medicine, Jacksonville, Florida; riegertjohnson.douglas@mayo.edu
2
Mayo Clinic College of Medicine, Rochester, Minnesota
3
National Human Genome Research Institute, Bethesda, Maryland
4
Mayo Clinic Florida, Jacksonville, Florida
5
Mayo Clinic Florida, Department of Dermatology
6
The Netherlands Cancer Institute, Family Cancer Institute
7
The Netherlands Cancer Institute, Department of Radiology
8
The Netherlands Cancer Institute, Department of Pathology
9
The Netherlands Cancer Institute, Department of Urology
10
Mayo Clinic Rochester

Excerpt

Birt-Hogg-Dubé (BHD) syndrome is a rare, autosomal dominantly inherited genodermatosis characterized by multiple cutaneous hamartomas (namely fibrofolliculomas and trichodiscomas) and increased susceptibility to renal neoplasms, pulmonary cysts, and spontaneous pneumothoraces. It is caused by mutations in the FLCN gene, which encodes a tumor-suppressor protein, folliculin.

Copyright © 2009-, Douglas L Riegert-Johnson.

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