Associated Papers
A second hotspot for pathogenic exon-skipping variants in CDC45.
Schoch K et al.
European Journal of Human Genetics : Ejhg, 2024
Diagnostic value of exome and whole genome sequencing in craniosynostosis.
Miller KA et al.
Journal of Medical Genetics, 2017
Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.
Fenwick AL et al.
American Journal of Human Genetics, 2016
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