Genetic Insights into Cranioectodermal Dysplasia

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This presentation explores Cranioectodermal Dysplasia (CED), focusing on the role of the CILK1 gene, particularly its non-catalytic domain. The study aims to investigate the CILK1 frameshift variant and its influence on CED, using methods such as genetic and cellular analysis and C. elegans as a model organism. Key findings highlight genetic variants and their ciliary implications. The discussion provides insights into intraflagellar transport disruption and clinical impacts, with...