Clinical and genetic spectrum of Birt–Hogg–Dubé syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature

BACKGROUND: Birt–Hogg–Dubé syndrome (BHDS) is an inherited autosomal genodermatosis characterised by fibrofolliculomas of the skin, renal tumours and multiple lung cysts. Genetic studies have disclosed that the clinical picture as well as responsible germline FLCN mutations are diverse. OBJECTIVES:...

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Detalhes bibliográficos
Main Authors: Kunogi, Makiko, Kurihara, Masatoshi, Ikegami, Takako Shigihara, Kobayashi, Toshiyuki, Shindo, Noriko, Kumasaka, Toshio, Gunji, Yoko, Kikkawa, Mika, Iwakami, Shin-ichiro, Hino, Okio, Takahashi, Kazuhisa, Seyama, Kuniaki
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2010
Assuntos:
Mutation Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2981024/
https://ncbi.nlm.nih.gov/pubmed/20413710
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2009.070565
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