Mutations of the Birt–Hogg–Dubé gene in patients with multiple lung cysts and recurrent pneumothorax

RATIONALE: Birt–Hogg–Dubé (BHD) syndrome, a rare inherited autosomal genodermatosis first recognised in 1977, is characterised by fibrofolliculomas of the skin, an increased risk of renal tumours and multiple lung cysts with spontaneous pneumothorax. The BHD gene, a tumour suppressor gene located at...

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Detalhes bibliográficos
Main Authors: Gunji, Yoko, Akiyoshi, Taeko, Sato, Teruhiko, Kurihara, Masatoshi, Tominaga, Shigeru, Takahashi, Kazuhisa, Seyama, Kuniaki
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2007
Assuntos:
Letter to JMG
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2597956/
https://ncbi.nlm.nih.gov/pubmed/17496196
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2007.049874
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