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Article

De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues.

Human genetics - 1 Jul 2023

Smits Daphne J, Schot Rachel, Popescu Cristiana A, Dias Kerith-Rae, Ades Lesley, Briere Lauren C, Sweetser David A, Kushima Itaru, Aleksic Branko, Khan Suliman, Karageorgou Vasiliki, Ordonez Natalia, Sleutels Frank J G T, van der Kaay Daniëlle C M, Van Mol Christine, Van Esch Hilde, Bertoli-Avella Aida M, Roscioli Tony, Mancini Grazia M S

Abstract excerpt

The minichromosome maintenance (MCM) complex acts as a DNA helicase during DNA replication, and thereby regulates cell cycle progression and proliferation. In addition, MCM-complex components localize to centrosomes and play an independent role in ciliogenesis. Pathogenic variants in genes coding for MCM components and other DNA replication factors have been linked to growth and developmental disorders as...

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Identifiers

PMID: 37198333
DOI: 10.1007/s00439-023-02569-7
PMCID: PMC10329600

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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