Pseudoachondroplasia Latest Advances

Elevated MMP9 Expression-A Potential In Vitro Biomarker for COMPopathies.

Journal: International journal of molecular sciences

Published: November 06, 2025

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

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