Pycnodysostosis- a rare disorder with distinctive craniofacial dysmorphia. A case report
Pycnodysostosis is a rare autosomal recessive condition caused by the mutation of CTSK gene. CTSK regulates the activity of Cathepsin K which is responsible for osteoclast-mediated bone resorption. This mutation causes the bones to become dense, sclerotic, brittle, and thus, prone to fracture. Affec...
Saved in:
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2021-10-01
|
| Series: | Journal of Oral Biology and Craniofacial Research |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2212426821000750 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|