Article
Ascending aortic aneurysm with or without features of Marfan syndrome and other fibrillinopathies: new insights.
Seminars in thoracic and cardiovascular surgery - 1 Jul 1997
Furthmayr H, Francke U
Abstract excerpt
More than 70 unique fibrillin-1 mutations have been identified in individuals with a variety of phenotypic changes. These range from severe neonatal lethal forms of Marfan syndrome to adult onset manifestations, mitral valve prolapse syndromes to isolated features such as ectopia lentis, Marfanoi...
Topics
- Adult
- Aortic Aneurysm
- Calcium-Binding Proteins
- Contractile Proteins
- Elastic Tissue
- Extracellular Matrix Proteins
- Fibrillin-1
- Fibrillin-2
- Fibrillins
- Humans
- Marfan Syndrome
- Microfilament Proteins
- Mutation
- Phenotype
- RNA Splicing Factors
- Sequence Analysis, DNA