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Whole exome sequencing in three families segregating a pediatric case of sarcoidosis

Abstract Background Sarcoidosis (OMIM 181000) is a multi-systemic granulomatous disorder of unknown origin. Despite multiple genome-wide association (GWAS) studies, no major pathogenic pathways have been identified to date. To find out relevant sarcoidosis predisposing genes, we searched for de novo...

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Principais autores: Alain Calender, Pierre Antoine Rollat Farnier, Adrien Buisson, Stéphane Pinson, Abderrazzaq Bentaher, Serge Lebecque, Harriet Corvol, Rola Abou Taam, Véronique Houdouin, Claire Bardel, Pascal Roy, Gilles Devouassoux, Vincent Cottin, Pascal Seve, Jean-François Bernaudin, Clarice X. Lim, Thomas Weichhart, Dominique Valeyre, Yves Pacheco, Annick Clement, Nadia Nathan, in the frame of GSF (Groupe Sarcoïdose France)
Formato: Artigo
Idioma:Inglês
Publicado em: BMC 2018-03-01
coleção:BMC Medical Genomics
Assuntos:
Sarcoidosis
Whole-exome sequencing (WES)
Candidate genes
Acesso em linha:http://link.springer.com/article/10.1186/s12920-018-0338-x
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