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Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm
Pathogenic germline mutations in ELN can be detected in patients with supravalvular aortic stenosis. The mutation might occur de novo or be inherited following an autosomal dominant pattern of inheritance. In this report we describe a three-generation family suffering from supravalvular aortic steno...
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| Yayımlandı: | Eur J Med Genet |
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| Asıl Yazarlar: | , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
2016
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5843366/ https://ncbi.nlm.nih.gov/pubmed/27866049 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ejmg.2016.11.004 |
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