A carregar...

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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:J Dermatol Case Rep
Main Authors: Rato, Margarida, Monteiro, Ana Filipe, Parente, Joana, Aranha, João, Tavares, Ermelindo
Formato: Artigo
Idioma:Inglês
Publicado em: Specjalisci Dermatolodzy 2017
Assuntos:
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!