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Improved understanding of the pathology of dwarfism may lead to new treatment targets

Pseudoachondroplasia (PSACH) is a severe inherited dwarfing condition characterised by disproportionate short stature, joint laxity, pain, and early onset osteoarthritis. In PSACH, a genetic mutation leads to abnormal retention of cartilage oligomeric matrix protein (COMP) within the endoplasmic reticulum (ER) of cartilage-producing cells (chondrocytes), which interferes with function and cell viability. In a report, investigators […]