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Loeys-Dietz syndrome
Summary
- Definition
- A syndrome that is characterized by increased risk of aortic aneurysm and dissection, elongated limbs, hypertelorism, bifid uvula and easy skin bruising due to mutations in TGFB3 that results in connective tissue defects.
- Super Class
- autosomal dominant disease syndrome
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O95528 | Solute carrier family 2, facilitated glucose transporter member 10 | |
| P35475 | Alpha-L-iduronidase |
