Acromesomelic Dysplasia Latest Advances
Find the Latest Research About Acromesomelic Dysplasia
Last Updated: 02/24/2026
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Found 919 publications
Neonatal X-linked recessive chondrodysplasia punctata.
Journal: QJM : monthly journal of the Association of Physicians
Published: October 20, 2025
Management of a geminated tooth and supernumeraries in a patient with Acromesomelic Dysplasia, Maroteaux type.
Journal: Journal of clinical orthodontics : JCO
Published: October 18, 2025
Clinical, Molecular Characteristics, and Genotype-Phenotype Relationships of Metaphyseal Chondrodysplasia Type Schmid.
Journal: Calcified tissue international
Published: October 06, 2025
Case Report: Dual pathogenic mechanism of a PRKG2 missense variant underlies an attenuated phenotype of acromesomelic dysplasia.
Journal: Frontiers in genetics
Published: September 19, 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
Last Updated: 02/24/2026