Clinical and genetic screening in a large Iranian family with Marfan syndrome: A case study.
Farzane VafaeieZahra Miri KaramAbolfazl YariHossein SafarpourTooba KazemiShokoofeh EtesamMojtaba MohammadpourEbrahim Miri-MoghaddamPublished in: Health science reports (2023)
Our report expands the spectrum of the Marfan phenotype by providing details of its clinical manifestations and disease-associated molecular changes. It also highlights the value of WES in genetic diagnosis and contributes to genetic counseling in families with MFS.