Article
A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype.
American journal of human genetics - 1 Dec 1994
Karttunen L, Raghunath M, Lönnqvist L, Peltonen L
Abstract excerpt
We describe here the identification of defined mutations in both alleles of the fibrillin gene (FBN1) in a compound-heterozygote Marfan syndrome (MFS) child who had a very severe form of MFS resulting in death from cardiac failure at the age of 4 mo. The nonconsanguineous parents were both affect...
Topics
- Actin Cytoskeleton
- Alleles
- Amino Acid Sequence
- Base Sequence
- Female
- Fibrillin-1
- Fibrillins
- Genes, Lethal
- Heterozygote
- Humans
- Infant
- Infant, Newborn
- Male
- Marfan Syndrome
- Microfilament Proteins
- Molecular Sequence Data
- Mutation
- Pedigree