Marfan syndrome: genetic basis and clinical manifestations.
Marfan syndrome is a systemic heritable disorder of connective tissue. The manifestations of the disorder are primarily from the musculoskeletal, cardiovascular, and ocular systems. Marfan syndrome is caused by mutations in the fibrillin gene located on chromosome 15.
Tsipouras
P
P
Department of Pediatrics, University of Connecticut Health Center, Farmington 06030.
Devereux
R B
RB
D000071837:Fibrillins; D006801:Humans; D008382:Marfan Syndrome / Q000150:complications / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D008840:Microfilament Proteins / Q000235:genetics; D017354:Point Mutation
D000071837:Fibrillins; D008840:Microfilament Proteins