1 results match your criteria: "Razi Hospital Birjand University of Medical Sciences Birjand Iran.[Affiliation]"
Clinical and genetic screening in a large Iranian family with Marfan syndrome: A case study.
Health Sci Rep
October 2023
Cardiovascular Disease Research Center, Razi Hospital Birjand University of Medical Sciences Birjand Iran.
Background And Aims: Marfan syndrome (MFS) is an autosomal dominant genetic disorder caused by pathogenic variants of the fibrillin-1-encoding gene that commonly affects the cardiovascular, skeletal, and ocular systems. This study aimed to evaluate the clinical features and genetic causes of the MFS phenotype in a large Iranian family.
Methods: Seventeen affected family members were examined clinically by cardiologists and ophthalmologists.