crouzonodermoskeletal syndrome (Q5189052)
autosomal dominant disease 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
- Crouzon syndrome-acanthosis nigricans syndrome
- Crouzon-dermoskeletal syndrome
- CAN
- CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS
- CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS; CAN
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | No label defined |
||
| English | crouzonodermoskeletal syndrome |
autosomal dominant disease 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 |
|
Statements
1 reference
1 reference
1 reference
1 reference
1 reference
5 references
1 reference
Identifiers
1 reference
1 reference
1 reference
1 reference
1 reference
1 reference
Sitelinks
Wikipedia(2 entries)
- bswiki Kruzonodermoskeletni sindrom
- enwiki Crouzonodermoskeletal syndrome
