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Analyzing The Phenotypic Effect Of Three Candidate Genes Associated With Nonsyndromic Craniosynostosis Using A Zebrafish Model, Megan A. Hept
Analyzing The Phenotypic Effect Of Three Candidate Genes Associated With Nonsyndromic Craniosynostosis Using A Zebrafish Model, Megan A. Hept
Theses and Dissertations
In normal cranial suture development, the cranial sutures close at predetermined periods of development to allow the brain the capability to grow in a malleable environment. However, in craniosynostosis, cranial sutures prematurely fuse before birth which can lead to a wide range of developmental issues and complications. Craniosynostosis can be categorized as nonsyndromic which involves the sole fusion of one or more of the cranial sutures, or syndromic in which cranial sutures fuse as well as other abnormalities associated with a genetic disorder. Past research has identified three candidate genes that could be possible disease causing mutations in nonsyndromic sagittal …
Identification Of Candidate Genes For Craniosynostosis, Karen Rymer
Identification Of Candidate Genes For Craniosynostosis, Karen Rymer
Theses and Dissertations
Craniosynostosis is a disorder characterized by the premature fusing of cranial sutures in an infant. Premature closure of these sutures can lead to detrimental consequences on the development of a child. The two broad categories of craniosynostosis are classified as syndromic and nonsyndromic. Nonsyndromic craniosynostosis involves only the fusion of one or more sutures, whereas syndromic craniosynostosis involves other abnormalities throughout the body of the affected individual. Two of the families analyzed in this study were of the syndromic nature, and known FGFR mutations were discovered. However, phenotypical features documented in association with these mutations differed from our individuals. Two …