CORDIS Project
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This project aims to identify genetic mutations linked to craniosynostosis, a condition affecting skull development. By analyzing patient cells for genetic variations, it seeks to uncover hidden mutations that influence cranial suture formation.
Objectives:
To identify the genetic basis of FGFR and TWIST1 mutation negative syndromic and nonsyndromic craniosynostosis Research Plan:
Patient cells from the sutures of FGFR and TWIST1 mutation negative syndromic and nonsyndromic craniosynostosis will be screened for mutations using two genetic approaches.
Firstly genomic DNA from the patient cells will be hybridised to Affymetrix snp microarrays to determine copy number variation.
Secondly the transcriptome of cranial suture cells will b…
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