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Copy Number Variants in a Population-Based Investigation of Klippel–Trenaunay Syndrome
Klippel–Trenaunay syndrome (KTS) is a rare congenital vascular disorder that is thought to occur sporadically; however, reports of familial occurrence suggest a genetic component. We examined KTS cases to identify novel, potentially causal copy number variants (CNVs). We identified 17 KTS cases from...
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| Yayımlandı: | Am J Med Genet A |
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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/PMC6205266/ https://ncbi.nlm.nih.gov/pubmed/27901321 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.37868 |
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