Haplotype analysis enables the diagnosis of Marfan syndrome. Conn Med 2004;68(6):363-6
Date
07/23/2004Pubmed ID
15266886Scopus ID
2-s2.0-2942748373 (requires institutional sign-in at Scopus site) 2 CitationsAbstract
Marfan syndrome is an inherited disorder of connective tissue associated with aneurysmal rupture of the ascending aorta. Timely and accurate diagnosis has reduced the mortality and morbidity associated with this disorder through expectant observation and implementation of appropriate prophylactic therapy. To this end, haplotype analysis using polymorphic genetic markers in close proximity to the Fibrillin-1 gene (FBN1) were employed to aid in the diagnosis of two individuals who did not meet the clinical diagnostic criteria.
Author List
Basel D, Kilpatrick MW, Tsipouras PAuthor
Donald Basel MD Chief, Professor in the Pediatrics department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
ChildDiagnosis, Differential
Female
Haplotypes
Humans
Marfan Syndrome
Pedigree
Phenotype
Polymorphism, Genetic