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Clinical and genetic studies of Birt-Hogg-Dubé syndrome

Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant cancer syndrome characterised by benign skin tumours, renal tumours, and spontaneous pneumothorax. The gene has been mapped to chromosome 17p11.2 and recently identified, expressing a novel protein called folliculin. We report the clinical and g...

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Main Authors: Khoo, S, Giraud, S, Kahnoski, K, Chen, J, Motorna, O, Nickolov, R, Binet, O, Lambert, D, Friedel, J, Levy, R, Ferlicot, S, Wolkenstein, P, Hammel, P, Bergerheim, U, Hedblad, M, Bradley, M, Teh, B, Nordenskjold, M, Richard, S
Formato: Artigo
Idioma:Inglês
Publicado: BMJ Group 2002
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1757219/
https://ncbi.nlm.nih.gov/pubmed/12471204
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.39.12.906
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