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Birt–Hogg–Dubé syndrome: a literature review and case study of a Chinese woman presenting a novel FLCN mutation
BACKGROUND: The Birt–Hogg–Dubé (BHD) syndrome is a very rare autosomal dominant form of genodermatosis caused by germline mutations in the folliculin (FLCN) gene, which is mapped to the p11.2 region in chromosome 17. BHD commonly presents cutaneous fibrofolliculomas, pulmonary cysts, renal cell carc...
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| Publicado no: | BMC Pulm Med |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5320703/ https://ncbi.nlm.nih.gov/pubmed/28222720 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12890-017-0383-9 |
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