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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...

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Bibliografiset tiedot
Julkaisussa:J Dermatol Case Rep
Päätekijät: Rato, Margarida, Monteiro, Ana Filipe, Parente, Joana, Aranha, João, Tavares, Ermelindo
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Specjalisci Dermatolodzy 2017
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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