Article
Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus.
Cell - 10 Feb 1995
Vikkula M, Mariman E C, Lui V C, Zhidkova N I, Tiller G E, Goldring M B, van Beersum S E, de Waal Malefijt M C, van den Hoogen F H, Ropers H H
Abstract excerpt
Identifying mutations that cause specific osteochondrodysplasias will provide novel insights into the function of genes that are essential for skeletal morphogenesis. We report here that an autosomal dominant form of Stickler syndrome, characterized by mild spondyloepiphyseal dysplasia, osteoarth...
Topics
- Adult
- Animals
- Base Sequence
- Bone Development
- Chromosome Mapping
- Collagen
- Female
- Genes, Dominant
- Genes, Recessive
- Genetic Linkage
- Humans
- Male
- Mice
- Molecular Sequence Data
- Morphogenesis
- Mutation
- Netherlands
- Osteoarthritis