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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Detalles Bibliográficos
Autores principales: Radzikowska, Elżbieta, Lechowicz, Urszula, Winek, Jolanta, Opoka, Lucyna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
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

Internet

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

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