Spontaneous pneumothorax as indicator for Birt-Hogg-Dubé syndrome in paediatric patients

BACKGROUND: Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominantly inherited disorder caused by germline mutations in the folliculin (FLCN) gene. Clinical manifestations of BHD include skin fibrofolliculomas, renal cell cancer, lung cysts and (recurrent) spontaneous pneumothorax (SP). All clin...

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Detalhes bibliográficos
Main Authors: Johannesma, Paul C, van den Borne, Ben EEM, Gille, Johannes JP, Nagelkerke, Ad F, van Waesberghe, JanHein TM, Paul, Marinus A, van Moorselaar, R Jeroen A, Menko, Fred H, Postmus, Pieter E
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4088368/
https://ncbi.nlm.nih.gov/pubmed/24994497
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2431-14-171
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