Mutations in CDC45, encoding an essential component of the pre-initiation complex, cause Meier-Gorlin Syndrome and Craniosynostosis

DNA replication precisely duplicates the genome to ensure stable inheritance of genetic information. Impaired licensing of origins of replication during the G1 phase of the cell cycle has been implicated in Meier-Gorlin syndrome (MGS), a disorder defined by the triad of short stature, microtia, and...

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Bibliographic Details
Main Authors: Fenwick, A, Kliszczak, M, Twigg, S, Goriely, A, McGowan, S, Miller, K, Wilkie, A, Niedzwiedz, W, WGS500 Consortium
Format: Journal article
Published: Cell Press 2016