Introduction: This study aimed to identify the potential genetic defects underlying familial clustering of lens dislocation in two unrelated Turkish families, consistent with the clinical features of
For each phenotypic sign Model 1 considers only age and pathogenic or VUS rare variants on FBN1 gene. Model 2 considers age, pathogenic or VUS rare variants resulted from the SKAT-O test analysis and
The Marfan database is a software that contains routines for the analysis of mutations identified in the FBN1 gene that encodes fibrillin-1. Mutations in this gene are associated not only with Marfan
Introduction: This study aimed to identify the potential genetic defects underlying familial clustering of lens dislocation in two unrelated Turkish families, consistent with the clinical features of
