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) identifier identifier identifier

  • 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
  • Orta Doğu Teknik Üniversitesi Adresli: Hayır

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.