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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4088368/
https://www.ncbi.nlm.nih.gov/pubmed/24994497
http://dx.doi.org/10.1186/1471-2431-14-171

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