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Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients
Cornelia de Lange syndrome (CdLS) is a rare multisystemic congenital anomaly disorder that is characterised by intellectual disability and growth retardation, congenital heart defects, intestinal anomalies, facial dysmorphism (including synophyris and high arched eyebrows) and limb reduction defects...
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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
2012
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3376273/ https://ncbi.nlm.nih.gov/pubmed/22353942 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.7 |
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