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

Archive ouverte | Calender, Alain | CCSD

International audience. AbstractBackgroundSarcoidosis (OMIM 181000) is a multi-systemic granulomatous disorder of unknown origin. Despite multiple genome-wide association (GWAS) studies, no major pathogenic pathways...

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

Archive ouverte | Calender, Alain | CCSD

International audience

Familial vs. sporadic sarcoidosis: BTNL2 polymorphisms, clinical presentations, and outcomes in a French cohort

Archive ouverte | Pacheco, Yves | CCSD

Background: The occurrence of familial forms of sarcoidosis (OMIM 181100) suggests a genetic predisposition. The involvement of butyrophilin-like 2 (BTNL2) gene (rs2076530 variant) has to be investigated.Results: The study perform...

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