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...
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| Main Authors: | , , , |
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| Format: | Book |
| Published: |
Elsevier,
2021-10-01T00:00:00Z.
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| Subjects: | |
| Online Access: | Connect to this object online. |
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