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.