Associated Papers
Unexpected molecular mechanism of Orc6-based Meier-Gorlin syndrome: insights from a humanized Drosophila model.
Balasov M 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
Meier-Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis of ORC6 Mutations and the Development of a Prenatal Test.
Nazarenko MS et al.
International Journal of Molecular Sciences, 2022
Clinical Profiles and Genetic Spectra of 814 Chinese Children With Short Stature.
Li X et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Humanized Drosophila Model of the Meier-Gorlin Syndrome Reveals Conserved and Divergent Features of the Orc6 Protein.
Balasov M et al.
Genetics, 2020
[A boy with Meier-Gorlin syndrome carrying a novel ORC6 mutation and uniparental disomy of chromosome 16].
Li J et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2017
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