Associated Papers
Molecular impacts of Meier-Gorlin syndrome mutations on human origin licensing.
Yang R et al.
The Journal of Biological Chemistry, 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
Loss-of-function of zebrafish cdt1 causes retarded body growth and underdeveloped gonads resembling human Meier-Gorlin syndrome.
He Y et al.
Journal of Zhejiang University. Science. B, 2023
Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome.
Zabnenkova V et al.
The Application of Clinical Genetics, 2022
Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms.
Schmit M et al.
International Journal of Molecular Sciences, 2021
Zebrafish cdc6 hypomorphic mutation causes Meier-Gorlin syndrome-like phenotype.
Yao L et al.
Human Molecular Genetics, 2017
Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome.
Stiff T et al.
Plos Genetics, 2013
23516378 (PubMed )
Supplement: pgen.1003360.s005.pdf
Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder.
de Munnik SA et al.
American Journal of Medical Genetics. Part A, 2012
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.
de Munnik SA et al.
European Journal of Human Genetics : Ejhg, 2012
Mutations in the pre-replication complex cause Meier-Gorlin syndrome.
Bicknell LS et al.
Nature Genetics, 2011
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