Article
Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.
BMC medical genomics - 6 Mar 2018
Calender Alain, Rollat Farnier Pierre Antoine, Buisson Adrien, Pinson Stéphane, Bentaher Abderrazzaq, Lebecque Serge, Corvol Harriet, Abou Taam Rola, Houdouin Véronique, Bardel Claire, Roy Pascal, Devouassoux Gilles, Cottin Vincent, Seve Pascal, Bernaudin Jean-François, Lim Clarice X, Weichhart Thomas, Valeyre Dominique, Pacheco Yves, Clement Annick, Nathan Nadia
Abstract excerpt
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 and recessive mutations in 3 young probands with sarcoidosis and their healthy parents using a whole-exome sequencing (WES)...
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