Article
Exclusion of type II and type VI procollagen gene mutations in a five-generation family with multiple epiphyseal dysplasia.
American journal of medical genetics - 1 Feb 1993
Weaver E J, Summerville G P, Yeh G, Hervada-Page M, Oehlmann R, Rothman R, Jimenez S A, Knowlton R G
Abstract excerpt
We have studied a family with an autosomal dominant form of multiple epiphyseal dysplasia (MED) inherited through at least 5 generations. Bilateral deformity of the hips with subsequent degenerative arthritis was the most common and most severe change observed in the affected relatives. Abnormali...
Topics
- Adult
- Aged
- Bone Diseases, Developmental
- Epiphyses
- Female
- Genes, Dominant
- Genetic Linkage
- Humans
- Male
- Middle Aged
- Mutation
- Pedigree
- Polymorphism, Restriction Fragment Length
- Procollagen
- Radiography