Učitavanje...
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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| Glavni autori: | , , , , , , , , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Nature Publishing Group
2012
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| Teme: | |
| Online pristup: | 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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