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Haplotype analysis enables the diagnosis of Marfan syndrome. Conn Med 2004 Jun-Jul;68(6):363-6 PMID: 15266886

Pubmed ID

15266886

Abstract

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 P

Author

Donald Basel MD Chief, Associate Professor in the Pediatrics department at Medical College of Wisconsin




Scopus

2-s2.0-2942748373   2 Citations

MESH terms used to index this publication - Major topics in bold

Child
Diagnosis, Differential
Female
Haplotypes
Humans
Marfan Syndrome
Pedigree
Phenotype
Polymorphism, Genetic
jenkins-FCD Prod-332 f92a19b0ec5e8e1eff783fac390ec127e367c2b5