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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Detalles Bibliográficos
Autores principales: 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: Texto
Lenguaje:English
Publicado: BMJ Group 2010
Materias:
Mutation Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2981024/
https://www.ncbi.nlm.nih.gov/pubmed/20413710
http://dx.doi.org/10.1136/jmg.2009.070565

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