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, cilt.22, sa.8, ss.474-480, 2018 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 22 Sayı: 8
Basım Tarihi: 2018
Doi Numarası: 10.1089/gtmb.2017.0286
Dergi Adı: GENETIC TESTING AND MOLECULAR BIOMARKERS
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.474-480
Anahtar Kelimeler: Marfan syndrome, FBN1, lens coloboma, FACTOR-LIKE DOMAINS, FIBRILLIN, GENOTYPE
Gazi Üniversitesi Adresli: Evet

Özet

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.