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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Bibliographische Detailangaben
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2014
Schlagworte:
Case Report
Online Zugang: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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