Identification of Three Novel FBN1 Mutations and Their Phenotypic Relationship of Marfan Syndrome

KAYHAN G., ERGÜN M. A., Ergun S. G., KULA S., PERÇİN F. E.

GENETIC TESTING AND MOLECULAR BIOMARKERS, vol.22, no.8, pp.474-480, 2018 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 22 Issue: 8
  • Publication Date: 2018
  • Doi Number: 10.1089/gtmb.2017.0286
  • Journal Name: GENETIC TESTING AND MOLECULAR BIOMARKERS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.474-480
  • Keywords: Marfan syndrome, FBN1, lens coloboma, FACTOR-LIKE DOMAINS, FIBRILLIN, GENOTYPE
  • Middle East Technical University Affiliated: No

Abstract

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.