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Last Updated: 10/31/2025
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Found 90 publications
Congenital Absence of Bilateral Patella in an Active Military Personnel Case Report.
Journal: Journal of orthopaedic case reports
Published: June 09, 2025
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.
Journal: Medicina (Kaunas, Lithuania)
Published: October 22, 2024
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.
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.
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.
Journal: Clinical genetics
Published: March 27, 2024
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.
Journal: Journal of Zhejiang University. Science. B
Published: November 14, 2023
Genetic analysis of a child with Meier-Gorlin syndrome due to a variant of ORC6 gene
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: September 20, 2023
Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.
Journal: Molecular systems biology
Published: September 15, 2023
Last Updated: 10/31/2025