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Further delineation of CDC45-related Meier-Gorlin syndrome with craniosynostosis and review of literature.
Eur J Med Genet. 2020 Feb;63(2):103652. doi: 10.1016/j.ejmg.2019.04.009. Epub 2019 Apr 13.
Eur J Med Genet. 2020.
PMID: 30986546
Review.
Meier-Gorlin syndrome (MGS) is a rare autosomal recessive disorder characterized by the triad of short stature, microtia and absent or small patellae. ...
Meier-Gorlin syndrome (MGS) is a rare autosomal recessive disorder characterized by the triad of short stature, microti …
Meier-Gorlin syndrome: report of eight additional cases and review.
Bongers EM, Opitz JM, Fryer A, Sarda P, Hennekam RC, Hall BD, Superneau DW, Harbison M, Poss A, van Bokhoven H, Hamel BC, Knoers NV.
Bongers EM, et al.
Am J Med Genet. 2001 Aug 1;102(2):115-24. doi: 10.1002/ajmg.1452.
Am J Med Genet. 2001.
PMID: 11477602
Review.
The Meier-Gorlin syndrome or ear, patella, short stature syndrome (MIM 224690) is a rare autosomal recessive disorder, characterized by the association of bilateral microtia, aplasia/hypoplasia of the patellae, and severe pre- and postnatal growth retardation …
The Meier-Gorlin syndrome or ear, patella, short stature syndrome (MIM 224690) is a rare autosomal recessive disorder, …
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Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms.
Schmit M, Bielinsky AK.
Schmit M, et al.
Int J Mol Sci. 2021 Jan 18;22(2):911. doi: 10.3390/ijms22020911.
Int J Mol Sci. 2021.
PMID: 33477564
Free PMC article.
Review.
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Dormant origins, the licensing checkpoint, and the response to replicative stresses.
McIntosh D, Blow JJ.
McIntosh D, et al.
Cold Spring Harb Perspect Biol. 2012 Oct 1;4(10):a012955. doi: 10.1101/cshperspect.a012955.
Cold Spring Harb Perspect Biol. 2012.
PMID: 22904560
Free PMC article.
Review.
Only 10% of replication origins that are licensed by loading minichromosome maintenance 2-7 (MCM2-7) complexes are normally used, with the majority remaining dormant. ...The licensing checkpoint delays entry into S phase if an insufficient number of origins have been licen …
Only 10% of replication origins that are licensed by loading minichromosome maintenance 2-7 (MCM2-7) complexes are normally used, wit …
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