Article
MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency.
European journal of human genetics : EJHG - 1 Jul 2021
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
Abstract excerpt
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, including a single case described with variants in MCM5. Conversely, a biallelic pathogenic variant in MCM4 underlies...
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