The identification and characterisation of disease genes in craniosynostosis

Current challenges to the understanding and clinical management of craniosynostosis (premature fusion of the cranial sutures) include the interpretation of changes in known disease genes, the identification of novel disease genes and the identification of pathogenic regulatory mutations. This thesis...

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Bibliographic Details
Main Author: Fenwick, Aimee Laura
Other Authors: Wilkie, Andrew O. M. ; Twigg, Stephen R. F.
Published: University of Oxford 2015
Subjects:
Online Access:https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.714001