TY - JOUR AU - Calender, Alain AU - Rollat Farnier, Pierre Antoine AU - Buisson, Adrien AU - Pinson, Stéphane AU - Bentaher, Abderrazzaq AU - Lebecque, Serge AU - Corvol, Harriet AU - Abou Taam, Rola AU - Houdouin, Véronique AU - Bardel, Claire AU - Roy, Pascal AU - Devouassoux, Gilles AU - Cottin, Vincent AU - Seve, Pascal AU - Bernaudin, Jean-François AU - Lim, Clarice X. AU - Weichhart, Thomas AU - Valeyre, Dominique AU - Pacheco, Yves AU - Clement, Annick AU - Nathan, Nadia AU - in the frame of GSF (Groupe Sarcoïdose France) PY - 2018 DA - 2018/03/06 TI - Whole exome sequencing in three families segregating a pediatric case of sarcoidosis JO - BMC Medical Genomics SP - 23 VL - 11 IS - 1 AB - 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) methodology. SN - 1755-8794 UR - https://doi.org/10.1186/s12920-018-0338-x DO - 10.1186/s12920-018-0338-x ID - Calender2018 ER -