Article
Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.
American journal of human genetics - 7 Jul 2016
Fenwick Aimee L, Kliszczak Maciej, Cooper Fay, Murray Jennie, Sanchez-Pulido Luis, Twigg Stephen R F, Goriely Anne, McGowan Simon J, Miller Kerry A, Taylor Indira B, Logan Clare, Bozdogan Sevcan, Danda Sumita, Dixon Joanne, Elsayed Solaf M, Elsobky Ezzat, Gardham Alice, Hoffer Mariette J V, Koopmans Marije, McDonald-McGinn Donna M, Santen Gijs W E, Savarirayan Ravi, de Silva Deepthi, Vanakker Olivier, Wall Steven A, Wilson Louise C, Yuregir Ozge Ozalp, Zackai Elaine H, Ponting Chris P, Jackson Andrew P, Wilkie Andrew O M, Niedzwiedz Wojciech, Bicknell Louise S
Abstract excerpt
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 a/hypoplastic patellae. Biallelic partial loss-of-function mutations in multiple components of the pre-replication...
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