Types
The main types of multiple epiphyseal dysplasia are:
- pseudochondroplasia:
- caused by a mutation in the COMP gene
- caused by a mutation in the COMP gene
- MED severe:
- caused by a mutation in the COMP gene
- caused by a mutation in the COMP gene
- MED mild:
- caused by a mutation in the type IX collagen gene
Reference:
- Wordsworth, P, Halliday, D. (2001). The real connective tissue diseases. Clinical Medicine, 1, 1, 21-4
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