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Birt-Hogg-Dubé Syndrome – report of two cases with two new mutations
INTRODUCTION: Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant genodermatosis characterized by cutaneous fibrofolliculomas and/or trichodiscomas, lung cysts, spontaneous pneumothorax and renal tumors. However, its clinical expression is highly variable. This syndrome is caused by germline...
Tallennettuna:
| Julkaisussa: | J Dermatol Case Rep |
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| Päätekijät: | , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Specjalisci Dermatolodzy
2017
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5439691/ https://ncbi.nlm.nih.gov/pubmed/28539984 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3315/jdcr.2017.1242 |
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