eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | weill-marchesani syndrome |
| Comorbidity | C0003493|aortic disease |
| Sentences | 1 |
| PubMedID- 23897642 | Missense mutations in fbn1 exons 41 and 42 cause weill-marchesani syndrome with thoracic aortic disease and marfan syndrome. |
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