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Birt-Hogg-Dubé Syndrome Caused by a Novel Mutation in the FLCL Gene
BACKGROUND: Birt-Hogg-Dubé syndrome is a genetic disorder characterized by skin fibrofolliculomas, cystic lung disease, and bilateral renal tumors. It has also been implicated in the formation of tumors in other organs, particularly thyroid and colon. This case presents a young female presenting wit...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Hindawi
2018
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6247678/ https://www.ncbi.nlm.nih.gov/pubmed/30533232 http://dx.doi.org/10.1155/2018/4173704 |