Pseudoachondroplasia (PSACH) is a spondylo-epi-metaphyseal dysplasia characterized by disproportionate short stature, generalized ligamentous laxity, and precocious osteoarthritis. PSACH is caused by mutations in the cartilage oligomeric matrix protein (COMP) gene, which codes for a noncollagenous p
Gonadal mosaicism in pseudoachondroplasia
β Scribed by Hall, Judith G. ;Dorst, John P. ;Rotta, Julie ;McKusick, Victor A. ;Opitz, John M. ;Reynolds, James F.
- Book ID
- 102701906
- Publisher
- John Wiley and Sons
- Year
- 1987
- Tongue
- English
- Weight
- 543 KB
- Volume
- 28
- Category
- Article
- ISSN
- 0148-7299
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