Meier-Gorlin Syndrome Latest Advances

Find the Latest Research About Meier-Gorlin Syndrome

Last Updated: 04/28/2026

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Found 96 publications

A Meier-Gorlin syndrome mutation impairs the loading of the MCM2-7 complex during DNA replication initiation.

A Meier-Gorlin syndrome mutation impairs the loading of the MCM2-7 complex during DNA replication initiation.

Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: February 20, 2026

Research advance on the clinical phenotypes and molecular genetic mechanisms of Microcephalic primordial dwarfism

Research advance on the clinical phenotypes and molecular genetic mechanisms of Microcephalic primordial dwarfism

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: February 01, 2026

Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism.

Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism.

Journal: American journal of human genetics
Published: December 18, 2025

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

Meier-Gorlin syndrome due to a recurrent DONSON variant in a Turkish family: first report of thumb aplasia and long-term growth data.

Meier-Gorlin syndrome due to a recurrent DONSON variant in a Turkish family: first report of thumb aplasia and long-term growth data.

Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: August 17, 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
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Last Updated: 04/28/2026