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Last Updated: 01/07/2026
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Found 972 publications
Neonatal X-linked recessive chondrodysplasia punctata.
Journal: QJM : monthly journal of the Association of Physicians
Published: October 20, 2025
Prenatal Imaging of Micrognathia, Micromelia, and Fetal Hydrops Leading to the Diagnosis of Achondrogenesis Type II with a COL2A1 Missense Mutation.
Journal: International journal of molecular sciences
Published: October 10, 2025
A diagnostic and management odyssey of a rare case of rhizomelic chondrodysplasia punctata.
Journal: JPMA. The Journal of the Pakistan Medical Association
Published: August 25, 2025
Chondrodysplasia Punctata: A Rare Entity Identified Incidentally.
Journal: Cureus
Published: August 24, 2025
miR-1737 targets TAK1 to mediate the BMP-Smad signaling pathway to regulate the molecular mechanism of chicken tibial chondrodysplasia.
Journal: Poultry science
Published: July 30, 2025
Chondrodysplasia Punctata: A Diagnostic Clue for Zellweger Spectrum Disorder.
Journal: Indian journal of pediatrics
Published: July 19, 2025
A mouse model of Jansen's metaphyseal chondrodysplasia for investigating disease mechanisms and candidate therapeutics.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: June 02, 2025
Molecular insights into the comorbidity of vitamin K-dependent clotting factor deficiency and chondrodysplasia punctata.
Journal: Journal of thrombosis and haemostasis : JTH
Published: May 08, 2025
X-linked dominant chondrodysplasia punctata due to novel mutation in EBP gene: A case report.
Journal: Medicine
Published: April 07, 2025
The p.W651fsX666 mutation on COL10A1 results in impaired trimerization of normal collagen X to induce Schmid type Metaphyseal chondrodysplasia.
Journal: Human molecular genetics
Published: March 22, 2025
Last Updated: 01/07/2026