GENETIC TESTING AND MOLECULAR BIOMARKERS, vol.22, no.8, pp.474-480, 2018 (Journal Indexed in SCI)
Article / Article
Title of Journal :
GENETIC TESTING AND MOLECULAR BIOMARKERS
Marfan syndrome, FBN1, lens coloboma, FACTOR-LIKE DOMAINS, FIBRILLIN, GENOTYPE
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.