Article
Marshall syndrome associated with a splicing defect at the COL11A1 locus.
American journal of human genetics - 1 Apr 1998
Griffith A J, Sprunger L K, Sirko-Osadsa D A, Tiller G E, Meisler M H, Warman M L
Abstract excerpt
Marshall syndrome is a rare, autosomal dominant skeletal dysplasia that is phenotypically similar to the more common disorder Stickler syndrome. For a large kindred with Marshall syndrome, we demonstrate a splice-donor-site mutation in the COL11A1 gene that cosegregates with the phenotype. The G+...
Topics
- Chromosomes, Human, Pair 1
- Collagen
- Craniofacial Abnormalities
- Female
- Genome, Human
- Humans
- Male
- Mutation
- Pedigree
- RNA Splicing