Article
Clinical and genetic associations in Marfan syndrome and related disorders.
The Mount Sinai journal of medicine, New York - 1 Sept 1992
Ramirez F, Lee B, Vitale E
Abstract excerpt
Although Marfan syndrome has been a recognized clinical entity for nearly a century, only in the early 1950s were its manifestations and genetic features firmly and fully established. Similarly, although the identification of the basic defect in Marfan syndrome had been vigorously pursued for sev...
Topics
- Fibrillins
- Genes
- Humans
- Marfan Syndrome
- Microfilament Proteins
- Mutation
