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Treacher Collins syndrome: etiology, pathogenesis and prevention
Treacher Collins syndrome (TCS) is a rare congenital disorder of craniofacial development that arises as the result of mutations in the TCOF1 gene, which encodes a nucleolar phosphoprotein known as Treacle. Individuals diagnosed with TCS frequently undergo multiple reconstructive surgeries, which ar...
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| Glavni autori: | , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Nature Publishing Group
2009
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2986179/ https://ncbi.nlm.nih.gov/pubmed/19107148 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2008.221 |
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