Of note, finding a single MEFV pathogenic variant in patients of Mediterranean origin does not exclude the possibility of disease-causing mutations in other HRF genes.28 However, interpretation of a ...

Disease genetics, of human, animal and plant diseases, investigates the consequences of pathogenic (host) genetic variants as the major causes of heritable disorders (monogenic diseases) as well ...

Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease, but many rheumatologists are not well acquainted with its management. The objective of this report is to ...