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Last Updated: 01/07/2026
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Found 273 publications
From Protein Misfolding to Extracellular Matrix Disorganisation: Understanding Disease Pathology in Rare Skeletal Dysplasias.
Journal: International journal of molecular sciences
Published: July 14, 2025
ER-resident proteins are key players in cartilage and bone homeostasis.
Journal: Frontiers in cell and developmental biology
Published: July 08, 2025
Clinical analysis in 15 pediatric patients with osteochondrodysplasias related to COMP gene variants
Clinical analysis in 15 pediatric patients with osteochondrodysplasias related to COMP gene variants
Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics
Published: May 20, 2025
Genetic Diseases Mimicking Rheumatic Disorders: Insights From Southeastern Turkey.
Journal: American journal of medical genetics. Part A
Published: April 18, 2025
Genetic variations in pseudoachondroplasia: a review of case reports.
Journal: Laboratory medicine
Published: April 18, 2025
CurQ+ With Resveratrol Diminish Joint Pain in a Child With Pseudoachondroplasia: A Case Report.
Journal: Cureus
Published: March 23, 2025
Genetic Analysis of Familial Developmental Dysplasia of the Hip Associated With a Heterozygous Variant in the COMP Gene: A Case Report.
Journal: Molecular genetics & genomic medicine
Published: February 15, 2025
Loss of CHOP Prevents Joint Degeneration and Pain in a Mouse Model of Pseudoachondroplasia.
Journal: International journal of molecular sciences
Published: October 02, 2024
Mental health conditions, physical functioning, and health-related quality of life in adults with a skeletal dysplasia: a cross-sectional multinational study.
Journal: Orphanet journal of rare diseases
Published: September 25, 2024
Pseudoachondroplasia associated with os odontoideum and retro-odontoid mass: case-based update.
Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
Published: September 16, 2024
Natural history study of Pseudoachondroplasia: A focus on oral health.
Journal: Birth defects research
Published: January 17, 2024
Last Updated: 01/07/2026