Next generation sequencing to identify new genetic causes of familial craniosynostosis

Thesis

Craniosynostosis, the premature fusion of one or more cranial sutures, is one of the most common craniofacial abnormalities. There is considerable genetic heterogeneity and the underlying pathophysiological mechanisms are diverse, occurring at multiple stages of cranial suture biogenesis. A genetic diagnosis, currently made in ~25% of cases, is an important aspect of the multidisciplinary approach to clinical management and genetic counselling. The aim of this thesis is to identify novel g...

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Authors: Hashimoto, A

• DOI: 10.5287/ora-b7v42q0gx
• Type of award: DPhil
• Level of award: Doctoral
• Awarding institution: University of Oxford