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• W2113439247 abstract "Andrew Jackson, Ernie Bongers and colleagues report the identification of mutations in five genes in individuals with Meier-Gorlin syndrome. The five genes, ORC1, ORC4, ORC6, CDT1 and CDC6, all encode components of the pre-replication complex. Meier-Gorlin syndrome (ear, patella and short-stature syndrome) is an autosomal recessive primordial dwarfism syndrome characterized by absent or hypoplastic patellae and markedly small ears1,2,3. Both pre- and post-natal growth are impaired in this disorder, and although microcephaly is often evident, intellect is usually normal in this syndrome. We report here that individuals with this disorder show marked locus heterogeneity, and we identify mutations in five separate genes: ORC1, ORC4, ORC6, CDT1 and CDC6. All of these genes encode components of the pre-replication complex, implicating defects in replication licensing as the cause of a genetic syndrome with distinct developmental abnormalities." @default.
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• W2113439247 date "2011-02-27" @default.
• W2113439247 modified "2023-10-11" @default.
• W2113439247 title "Mutations in the pre-replication complex cause Meier-Gorlin syndrome" @default.
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• W2113439247 doi "https://doi.org/10.1038/ng.775" @default.
• W2113439247 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3068194" @default.
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