Article
Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia.
Human genetics - 1 Dec 1998
Ikegawa S, Ohashi H, Nishimura G, Kim K C, Sannohe A, Kimizuka M, Fukushima Y, Nagai T, Nakamura Y
Abstract excerpt
Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are common skeletal dysplasias with impaired enchondral ossification and premature degenerative joint disease. The two disorders were in the past considered to be distinct clinical entities; however, recent studies have proven t...
Topics
- Achondroplasia
- Cartilage Oligomeric Matrix Protein
- Extracellular Matrix Proteins
- Genotype
- Glycoproteins
- Humans
- Matrilin Proteins
- Mutation
- Osteochondrodysplasias
- Phenotype
- Point Mutation
- Polymerase Chain Reaction
- Sequence Analysis, DNA
- Sequence Deletion