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Novel folliculin gene mutations in Polish patients with Birt–Hogg–Dubé syndrome
BACKGROUND: Birt–Hogg–Dubé syndrome (BHDS) is a rare, autosomal dominant, inherited disease caused by mutations in the folliculin gene (FLCN). The disease is characterised by skin lesions (fibrofolliculomas, trichodiscomas, acrochordons), pulmonary cysts with pneumothoraces and renal tumours. We pre...
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| Yayımlandı: | Orphanet J Rare Dis |
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| Asıl Yazarlar: | , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
BioMed Central
2021
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8258955/ https://ncbi.nlm.nih.gov/pubmed/34229741 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-021-01931-0 |
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