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De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation
Xq28 duplications including MECP2 are a well-known cause of severe mental retardation in males with seizures, muscular hypotonia, progressive spasticity, poor speech and recurrent infections that often lead to early death. Female carriers usually show a normal intellectual performance due to skewed...
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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: |
Nature Publishing Group
2011
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3083613/ https://ncbi.nlm.nih.gov/pubmed/21326285 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.226 |
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