Location on Chromosome 15 of the Gene Defect Causing Marfan Syndrome

Abstract excerpt

BACKGROUND: Marfan syndrome, "the founding member" of the heritable disorders of connective tissue, is a common autosomal dominant disorder with highly variable clinical manifestations in the skeletal, ocular, and cardiovascular systems. The fundamental defect leading to this disease has escaped definition despite decades of research efforts by several groups of investigators. METHODS AND RESULTS: Using linkage...