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Crouzon syndrome-acanthosis nigricans syndrome
Summary
- Synonym
-
- CAN
- Crouzon-dermoskeletal syndrome
- Crouzonodermoskeletal syndrome
- Definition
- A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16.
- Super Class
- autosomal dominant disease bone disease syndrome
External Links
- Disease Ontology
- DOID:0111161
- ORDO
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P22607 | Fibroblast growth factor receptor 3 |
