Article
Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome.
American journal of human genetics - 1 Dec 1998
Montgomery R A, Geraghty M T, Bull E, Gelb B D, Johnson M, McIntosh I, Francomano C A, Dietz H C
Abstract excerpt
Mutations in the FBN1 gene, which encodes fibrillin-1, cause Marfan syndrome (MFS) and have been associated with a wide range of milder, overlap phenotypes. The factors that modulate phenotypic severity, both between and within families, remain to be determined. This study examines the relationsh...
Topics
- Adult
- Alleles
- Cells, Cultured
- Child
- Child, Preschool
- DNA Mutational Analysis
- Female
- Fibrillin-1
- Fibrillins
- Genetic Linkage
- Genetic Variation
- Genotype
- Haplotypes
- Heteroduplex Analysis
- Humans
- Male
- Marfan Syndrome
- Microfilament Proteins