Meier-Gorlin Syndrome
Defects in components of the eukaryotic replication complex are known to cause Meier-Gorlin syndrome, which is characterized by absent or hypoplastic patellae, small ears, impaired pre- and post-natal growth, and microcephaly. Known mutations are in the ORC1, ORC4, ORC6, CDT1, and CDC6 genes. The disease phenotype probably originates from reduced ability of cells to proliferate, reduced cell number, and general growth failure.
Read more about this topic: Pre-replication Complex
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