Birt-Hogg-Dubé Syndrome Caused by a Novel Mutation in the FLCL Gene

Background. Birt-Hogg-Dubé syndrome is a genetic disorder characterized by skin fibrofolliculomas, cystic lung disease, and bilateral renal tumors. It has also been implicated in the formation of tumors in other organs, particularly thyroid and colon. This case presents a young female presenting wit...

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Bibliographic Details
Main Authors: Charles Volk, Gregory Matwiyoff
Format: Article
Language:English
Published: Wiley 2018-01-01
Series:Case Reports in Genetics
Online Access:http://dx.doi.org/10.1155/2018/4173704
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