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Two Japanese Cases of Birt-Hogg-Dubé Syndrome with Pulmonary Cysts, Fibrofolliculomas, and Renal Cell Carcinomas
Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominant inherited disease caused by a germline mutation in the folliculin gene mapped in the region of chromosome 17p11.2. BHD predisposes the patient to cutaneous fibrofolliculomas (FFs), pulmonary cysts (PCs), and renal cell carcinoma (RC). Here,...
Autores principales: | Murakami, Yukako, Wataya-Kaneda, Mari, Tanaka, Mari, Takahashi, Aya, Tsujimura, Akira, Inoue, Koji, Nonomura, Norio, Katayama, Ichiro |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
S. Karger AG
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3985789/ https://www.ncbi.nlm.nih.gov/pubmed/24748863 http://dx.doi.org/10.1159/000358216 |
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