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Somatic Mosaicism for Paternal Uniparental Disomy of 11p15.5 Region in Adrenal and Liver Tissues in a Newborn with Atypical Beckwith–Wiedemann Syndrome
Beckwith–Wiedemann syndrome (BWS) is characterized by overgrowth and increased risk of embryonic tumors. It results from alterations in genes controlled by imprinting centers H19DMR (Imprinting Center [IC] 1) and KvDMR (IC2). Strategies for diagnostic confirmation include methylation analysis and CD...
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| 出版年: | J Pediatr Genet |
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| 主要な著者: | , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Georg Thieme Verlag KG
2019
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| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6824882/ https://ncbi.nlm.nih.gov/pubmed/31687262 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0039-1692197 |
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