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Rubinstein-Taybi syndrome
Summary
- Synonym
-
- Broad Thumb-Hallux syndrome
- Rubinstein syndrome
- proximal chromosome 16p13.3 deletion syndrome
- Definition
- A syndrome characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes.
- Super Class
- autosomal dominant disease chromosomal deletion syndrome syndrome
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q09472 | Histone acetyltransferase p300 | |
| Q92793 | CREB-binding protein |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P45481 | Histone lysine acetyltransferase CREBBP |
