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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...
Gorde:
| Argitaratua izan da: | Orphanet J Rare Dis |
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| Egile Nagusiak: | , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
BioMed Central
2021
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| Gaiak: | |
| Sarrera elektronikoa: | 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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