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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Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: BMJ Group 2010
Schlagworte:
Mutation Report
Online Zugang: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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