A carregar...
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...
Na minha lista:
| Publicado no: | Orphanet J Rare Dis |
|---|---|
| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2021
|
| Assuntos: | |
| Acesso em linha: | 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 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|