Associated Papers
Mutational analysis of the Drosophila CMG helicase reveals relationships among chromosome integrity and the maintenance of spindle and centrosome structure.
Graziadio L et al.
Genetics, 2025
A novel homozygous intronic variant in CDT1 that alters splicing causes Meier-Gorlin syndrome, and a review of published mutations and growth hormone treatments.
Li Q et al.
Orphanet Journal of Rare Diseases, 2024
The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome.
Nielsen-Dandoroff E et al.
European Journal of Human Genetics : Ejhg, 2023
Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels.
Tooze RS et al.
Genes, 2023
36980886 (PubMed )
Supplement: genes-14-00615-s001.zip › Supplementary_Information.pdf
Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis.
Nabais Sá MJ et al.
Journal of Medical Genetics, 2022
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