GENETIC TESTING AND MOLECULAR BIOMARKERS, cilt.22, sa.8, ss.474-480, 2018 (SCI-Expanded)
Background: Marfan syndrome (MS), a connective tissue disorder that affects ocular, skeletal, and cardiovascular systems, is caused by heterozygous pathogenic variants in FBN1. To date, over 1800 different pathogenic variants have been reported.