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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8258955/ https://www.ncbi.nlm.nih.gov/pubmed/34229741 http://dx.doi.org/10.1186/s13023-021-01931-0 |