Where Birt–Hogg–Dubé meets Cowden Syndrome: mirrored genetic defects in two cases of syndromic oncocytic tumours

Birt–Hogg–Dubè (BHD) is an autosomal dominant syndrome characterised by skin fibrofolliculomas, lung cysts, spontaneous pneumothorax and renal cancer. The association of benign cutaneous lesions and increased cancer risk is also a feature of Cowden Syndrome (CS), an autosomal dominant disease caused...

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Detalhes bibliográficos
Main Authors: Pradella, Laura Maria, Lang, Martin, Kurelac, Ivana, Mariani, Elisa, Guerra, Flora, Zuntini, Roberta, Tallini, Giovanni, MacKay, Alan, Reis-Filho, Jorge S, Seri, Marco, Turchetti, Daniela, Gasparre, Giuseppe
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2013
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3778364/
https://ncbi.nlm.nih.gov/pubmed/23386036
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.8
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