Article
Spondyloepiphyseal dysplasia congenita: genetic linkage to type II collagen (COL2AI).
American journal of human genetics - 1 May 1990
Anderson I J, Goldberg R B, Marion R W, Upholt W B, Tsipouras P
Abstract excerpt
Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominantly inherited chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Manifestations are present at birth. We ascertained a 4-generation family exhibiti...
Topics
- Adult
- Child
- Collagen
- DNA
- Female
- Genes, Dominant
- Genotype
- Humans
- Infant
- Lod Score
- Lymphocytes
- Male
- Osteochondrodysplasias
- Pedigree
- Polymorphism, Restriction Fragment Length
- Radiography
- Restriction Mapping