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• W2065811810 abstract "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 are rarely fully corrective. Identifying potential avenues for rescue and/or repair of TCS depends on a profound appreciation of the etiology and pathogenesis of the syndrome. Recent research using animal models has not only determined the cellular basis of TCS but also, more importantly, unveiled a successful avenue for therapeutic intervention and prevention of the craniofacial anomalies observed in TCS." @default.
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• W2065811810 date "2008-12-24" @default.
• W2065811810 modified "2023-10-16" @default.
• W2065811810 title "Treacher Collins syndrome: etiology, pathogenesis and prevention" @default.
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• W2065811810 doi "https://doi.org/10.1038/ejhg.2008.221" @default.
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