Article
[Intra- and interfamilial phenotype variation in Birt-Hogg-Dubé syndrome: Consequences for therapy].
Annales de dermatologie et de venereologie - 1 Mar 2010
Steff M, Bourillon A, Frebourg T, Balderi X, Descamps V, Joly P, Piette F, Crestani B, Grandchamp B, Soufir N
Abstract excerpt
BACKGROUND: Birt-Hogg-Dubé syndrome (BHDS) is an autosomal-dominantly inherited genodermatosis that predisposes to the development of benign hair follicle tumours, lung cysts, kidney tumours, and possibly colonic cancers, due to mutations in the FLCN gene. We report cases involving a new mutation in three unrelated families. MATERIALS AND METHODS: Blood samples of three probands were submitted for a molecular...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.