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Thesis

The identification and characterisation of disease genes in craniosynostosis

Abstract:

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 aims to address these issues and by doing so improve diagnosis, surgical prognosis and support for affected families.

Expanding the repertoire of known disease mechanisms, pathogenicity...

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Institution:
University of Oxford
Oxford college:
Linacre College
Role:
Author

Contributors

Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
Weatherall Insti. of Molecular Medicine
Role:
Supervisor
Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
Weatherall Insti. of Molecular Medicine
Role:
Supervisor
Type of award:
DPhil
Level of award:
Doctoral
Awarding institution:
University of Oxford
Language:
English
Keywords:
Subjects:
UUID:
uuid:f1ff85d2-b13b-4439-b779-2ac778974fdc
Deposit date:
2016-06-25

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