Article
Multiple Osteochondritis Dissecans as Main Manifestation of Multiple Epiphyseal Dysplasia Caused by a Novel Cartilage Oligomeric Matrix Protein Pathogenic Variant: A Clinical Report.
Genes - 20 Nov 2024
Mazzotti Antonio, Artioli Elena, Brizola Evelise, Moroni Alice, Tremosini Morena, Di Cecco Alessia, Gallone Salvatore, Faldini Cesare, Sangiorgi Luca, Gnoli Maria
Abstract excerpt
BACKGROUND: Multiple epiphyseal dysplasia (MED) is a clinically and genetically heterogeneous group of skeletal diseases characterized by epiphyseal abnormalities associated with mild short stature. The clinical variability is wide, and the first clinical manifestations still occur in childhood with joint pain and stiffness that evolve into degenerative joint disease. MED, caused by mutations in the Cartilage...
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