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

KAYHAN, GÜLSÜM; ERGÜN, MEHMET; Ergun, Sezen; KULA, SERDAR; PERÇİN, FERDA

doi:10.1089/gtmb.2017.0286

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, Scopus)

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
Gazi University Affiliated: Yes

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.