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, ss.474-480, 2018 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 22 Konu: 8
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1089/gtmb.2017.0286
  • Dergi Adı: GENETIC TESTING AND MOLECULAR BIOMARKERS
  • Sayfa Sayıları: ss.474-480

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.