Φορτώνει......
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...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | J Oral Biol Craniofac Res |
|---|---|
| Κύριοι συγγραφείς: | , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Elsevier
2021
|
| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8327332/ https://ncbi.nlm.nih.gov/pubmed/34377661 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jobcr.2021.07.006 |
| Ετικέτες: |
Προσθήκη ετικέτας
Δεν υπάρχουν, Καταχωρήστε ετικέτα πρώτοι!
|