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1q21.1 microduplication in a patient with mental impairment and congenital heart defect
1q21.1 duplication is a rare copy number variant with multiple congenital malformations, including developmental delay, autism spectrum disorder, dysmorphic features and congenital heart anomalies. The present study described a Chinese female patient (age, four years and eight months) with multiple...
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| 出版年: | Mol Med Rep |
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| 主要な著者: | , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
D.A. Spandidos
2015
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4581767/ https://ncbi.nlm.nih.gov/pubmed/26238956 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/mmr.2015.4166 |
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