Study of the role of genetic variation in the phenotypic variability and response to treatment in patients with Marfan Syndrome Ghent University
Marfan syndrome is an autosomal dominant disease characterized by multisystemic involvement including ectopia lentis, skeletal overgrowth and aortic root dilatation. Althought the genetic basis for the disease has been identified as the FBN1 gene, the molecular basis for its wide inter- and intrafamilial variability has not been identified. This study studies the influence of single nucleotide polymophisms in the genes encoding in this ...