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Somatic Uniparental Isodisomy Explains Multifocality of Glomuvenous Malformations
Inherited vascular malformations are commonly autosomal dominantly inherited with high, but incomplete, penetrance; they often present as multiple lesions. We hypothesized that Knudson’s two-hit model could explain this multifocality and partial penetrance. We performed a systematic analysis of inhe...
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| 主要な著者: | , , , , , , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Elsevier
2013
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3567282/ https://ncbi.nlm.nih.gov/pubmed/23375657 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.12.017 |
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