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cleidocranial dysplasia
Summary
- Synonym
-
- Marie-Sainton Disease
- cleidocranial dysostosis
- Definition
- An osteochondrodysplasia that has_material_basis_in mutations in the RUNX2 gene which results_in undeveloped or absent located_in clavicle along with delayed closing of fontanels in the located_in skull.
- Super Class
- autosomal dominant disease osteochondrodysplasia
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9UBV7 | Beta-1,4-galactosyltransferase 7 | |
| Q9UQE7 | Structural maintenance of chromosomes protein 3 | |
| Q9Y6Z7 | Collectin-10 |
