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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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Bibliografski detalji
Glavni autori: Trainor, Paul A, Dixon, Jill, Dixon, Michael J
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group 2009
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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