Clinical and genetic investigations of five Chinese families with Birt–Hogg–Dubé syndrome: a long-term follow-up study
Birt–Hogg–Dubé syndrome (BHDS), an autosomal dominant disease, is caused by germline mutations in the folliculin (FLCN, NM_144997) gene. This rare disorder is characterized by a clinical triad, which includes fibrofolliculomas (FFs), renal cell carcinoma (RCC), and pulmonary manifestations such as m...
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| Principais autores: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
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Frontiers Media S.A.
2025-09-01
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| Colecção: | Frontiers in Medicine |
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| Acesso em linha: | https://www.frontiersin.org/articles/10.3389/fmed.2025.1613154/full |
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