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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| 主要な著者: | , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Elsevier
2021-10-01
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| シリーズ: | Journal of Oral Biology and Craniofacial Research |
| 主題: | |
| オンライン･アクセス: | http://www.sciencedirect.com/science/article/pii/S2212426821000750 |
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