MED,COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia
โ Scribed by Ralph S. Lachman; Deborah Krakow; Daniel H. Cohn; David L. Rimoin
- Publisher
- Springer-Verlag
- Year
- 2004
- Tongue
- English
- Weight
- 588 KB
- Volume
- 35
- Category
- Article
- ISSN
- 0301-0449
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
Pseudoachondroplasia (PSACH) and some forms of multiple epiphyseal dysplasia (MED) result from mutations in the gene encoding cartilage oligomeric matrix protein (COMP). COMP is a large pentameric glycoprotein found predominantly in the extracellular matrix of cartilage, tendon, and ligament. As a m
Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are relatively common skeletal dysplasias resulting in short-limbed dwarfism, joint pain, and stiffness. PSACH and the largest proportion of autosomal dominant MED (AD-MED) results from mutations in cartilage oligomeric matrix prot