PedAM
Pediatric Disease Annotations & Medicines
| Disease | n syndrome |
| Phenotype | C0003507|aortic stenosis |
| Sentences | 2 |
| PubMedID- 25428557 | Included in the duplicated region is elastin (eln), implicated as the cause of supravalvar aortic stenosis in patients with williams-beuren syndrome. |
| PubMedID- 21080980 | Supravalvular aortic stenosis is associated with the williams-beuren syndrome, but it also occurs in a non-syndromatic congenital form. |
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