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Phenotype variation in Treacher Collins Syndrome: from missense to splice site mutations

Published:January 25, 2013DOI:https://doi.org/10.1016/j.bjoms.2012.12.002
      We thank the authors of this letter for their interest in our article.
      • van Gijn D.R.
      • Tucker A.S.
      • Cobourne M.T.
      Craniofacial development: current concepts in the molecular basis of Treacher Collins syndrome.
      The paper was intended to be a general overview for the maxillofacial surgeon rather than a definitive narrative on the molecular basis of Treacher Collins syndrome, but we agree that it is important to recognise that other mutations can also be responsible for the condition. We also acknowledge the fact that splice site mutations may lead to a more severe phenotype, whilst missense mutations may be associated with milder phenotypes.
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      Reference

        • van Gijn D.R.
        • Tucker A.S.
        • Cobourne M.T.
        Craniofacial development: current concepts in the molecular basis of Treacher Collins syndrome.
        Br J Oral Maxillofac Surg. 2012; ([Epub ahead of print])