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Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome
BACKGROUND: Beckwith-Wiedemann Syndrome (BWS) is characterised by overgrowth and tumour predisposition. While multiple epigenetic and genetic mechanisms cause BWS, the majority are caused by methylation defects in imprinting control regions on chromosome 11p15.5. Disease-causing methylation defects...
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| 出版年: | J Med Genet |
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| 主要な著者: | , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2020
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7959163/ https://ncbi.nlm.nih.gov/pubmed/32430359 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2019-106498 |
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