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Birt–Hogg–Dubé syndrome in an Indonesian patient with folliculin gene mutation
Birt–Hogg–Dubé (BHD) syndrome is a rare autosomal dominant disorder that affects the skin, kidney, and lungs. Affected individuals have an increased risk of developing multiple cysts in the lungs and a spontaneous pneumothorax. Germline mutations in the folliculin (FLCN) gene have been confirmed as...
保存先:
| 出版年: | Respirol Case Rep |
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| 主要な著者: | , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
John Wiley & Sons, Ltd
2016
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5167323/ https://ncbi.nlm.nih.gov/pubmed/28031834 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/rcr2.199 |
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