Meier-Gorlin Syndrome Latest Advances

Find the Latest Research About Meier-Gorlin Syndrome

Last Updated: 02/24/2026

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Found 92 publications

Molecular impacts of Meier-Gorlin syndrome mutations on human origin licensing.

Molecular impacts of Meier-Gorlin syndrome mutations on human origin licensing.

Journal: The Journal of biological chemistry
Published: November 16, 2025

Anesthetic management in a child with Meier-Gorlin syndrome: a case report.

Anesthetic management in a child with Meier-Gorlin syndrome: a case report.

Journal: BMC anesthesiology
Published: August 01, 2025

Congenital Absence of Bilateral Patella in an Active Military Personnel Case Report.

Congenital Absence of Bilateral Patella in an Active Military Personnel Case Report.

Journal: Journal of orthopaedic case reports
Published: June 09, 2025

Unexpected molecular mechanism of Orc6-based Meier-Gorlin syndrome: insights from a humanized Drosophila model.

Unexpected molecular mechanism of Orc6-based Meier-Gorlin syndrome: insights from a humanized Drosophila model.

Journal: Genetics
Published: May 06, 2025

Diagnostic Yield of Exome Sequencing for Pregnancies With and Without Fetal Anomalies and for Stillbirth.

Diagnostic Yield of Exome Sequencing for Pregnancies With and Without Fetal Anomalies and for Stillbirth.

Journal: Prenatal diagnosis
Published: December 25, 2024

Clinical Challenges in Diagnosing Primordial Dwarfism: Insights from a MOPD II Case Study.

Clinical Challenges in Diagnosing Primordial Dwarfism: Insights from a MOPD II Case Study.

Journal: Medicina (Kaunas, Lithuania)
Published: October 22, 2024

Effects of CDC45 mutations on DNA replication and genome stability.

Effects of CDC45 mutations on DNA replication and genome stability.

Journal: Biochimica et biophysica acta. Molecular cell research
Published: October 21, 2024

Meier-Gorlin syndrome type 7: a rare cause of primordial dwarfism: two new cases and literature review.

Meier-Gorlin syndrome type 7: a rare cause of primordial dwarfism: two new cases and literature review.

Journal: Clinical dysmorphology
Published: June 27, 2024

A novel homozygous intronic variant in CDT1 that alters splicing causes Meier-Gorlin syndrome, and a review of published mutations and growth hormone treatments.

A novel homozygous intronic variant in CDT1 that alters splicing causes Meier-Gorlin syndrome, and a review of published mutations and growth hormone treatments.

Journal: Orphanet journal of rare diseases
Published: April 06, 2024

Functional studies in yeast confirm the pathogenicity of a new GINS3 Meier-Gorlin syndrome variant.

Functional studies in yeast confirm the pathogenicity of a new GINS3 Meier-Gorlin syndrome variant.

Journal: Clinical genetics
Published: March 27, 2024

A second hotspot for pathogenic exon-skipping variants in CDC45.

A second hotspot for pathogenic exon-skipping variants in CDC45.

Journal: European journal of human genetics : EJHG
Published: December 16, 2023

Loss-of-function of zebrafish cdt1 causes retarded body growth and underdeveloped gonads resembling human Meier-Gorlin syndrome.

Loss-of-function of zebrafish cdt1 causes retarded body growth and underdeveloped gonads resembling human Meier-Gorlin syndrome.

Journal: Journal of Zhejiang University. Science. B
Published: November 14, 2023
Showing 1-12 of 92

Last Updated: 02/24/2026