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- Title
Mutations of the Birt Hogg Dube gene in patients with multiple lung cysts and recurrent pneumothorax.
- Authors
Gunji, Yoko; Akiyoshi, Taeko; Sato, Teruhiko; Kurihara, Masatoshi; Tominaga, Shigeru; Takahashi, Kazuhisa; Seyama, Kuniaki
- Abstract
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 chromosome 17p11.2, has recently been shown to be defective. Recent genetic studies revealed that clinical pictures of the disease may be variable and may not always present the full expression of the phenotypes.
- Publication
Journal of medical genetics, 2007, Vol 44, Issue 9, p588
- ISSN
1468-6244
- Publication type
Research
- DOI
10.1136/jmg.2007.049874