Article
Cosegregation of elastin-associated microfibrillar abnormalities with the Marfan phenotype in families.
American journal of human genetics - 1 Apr 1990
Godfrey M, Menashe V, Weleber R G, Koler R D, Bigley R H, Lovrien E, Zonana J, Hollister D W
Abstract excerpt
The Marfan syndrome is a serious heritable connective-tissue disorder characterized primarily by ocular, cardiovascular, and musculoskeletal abnormalities but also involving multiple other tissues and organs of the body. Inherited as an autosomal dominant disorder, the etiology and pathogenesis of the Marfan syndrome are presently unknown. We have documented consistent apparent deficient content of...
Topics
- Adolescent
- Adult
- Aged
- Cells, Cultured
- Child
- Child, Preschool
- Elastin
- Female
- Fluorescent Antibody Technique
- Humans
- Male
- Marfan Syndrome