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Crouzon syndrome
Summary
- Synonym
-
- Craniofacial Dysostosis
- Definition
- A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene.
- Super Class
- craniosynostosis
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P51654 | Glypican-3 |
