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  • Title: Treacher Collins syndrome: etiology, pathogenesis and prevention.
    Author: Trainor PA, Dixon J, Dixon MJ.
    Journal: Eur J Hum Genet; 2009 Mar; 17(3):275-83. PubMed ID: 19107148.
    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.
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