MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency

The MCM2-7 helicase is a heterohexameric complex with essential roles as part of both the pre-replication and pre-initiation complexes in the early stages of DNA replication. Meier-Gorlin syndrome, a rare primordial dwarfism, is strongly associated with disruption to the pre-replication complex, inc...

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Foilsithe in:Eur J Hum Genet
Main Authors: Knapp, Karen M., Jenkins, Danielle E., Sullivan, Rosie, Harms, Frederike L., von Elsner, Leonie, Ockeloen, Charlotte W., de Munnik, Sonja, Bongers, Ernie M. H. F., Murray, Jennie, Pachter, Nicholas, Denecke, Jonas, Kutsche, Kerstin, Bicknell, Louise S.
Formáid: Artigo
Teanga:Inglês
Foilsithe: Springer International Publishing 2021
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Article
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC8298597/
https://ncbi.nlm.nih.gov/pubmed/33654309
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-021-00839-4
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