Multiple Osteochondritis Dissecans as Main Manifestation of Multiple Epiphyseal Dysplasia Caused by a Novel Cartilage Oligomeric Matrix Protein Pathogenic Variant: A Clinical Report
This report can expand the clinical phenotype related to the pathogenic variants of the <i>COMP</i> gene, as it shows that multiple OCD can also be present in <i>COMP</i>-related MED as well as in <i>COL9A2</i>-related MED.
Authors
- Alessia Di Cecco (ORCID: https://orcid.org/0009-0002-5691-0786)
- Alice Moroni (ORCID: https://orcid.org/0000-0002-4777-341X)
- Evelise Brizola (ORCID: https://orcid.org/0000-0001-8067-5101)
- Antonio Mazzotti (ORCID: https://orcid.org/0000-0001-9974-4787)
- Maria Gnoli (ORCID: https://orcid.org/0000-0002-5907-7470)
- Salvatore Gallone (ORCID: https://orcid.org/0000-0002-3156-4613)
- Elena Artioli (ORCID: https://orcid.org/0000-0001-9279-4722)
- Luca Sangiorgi (ORCID: https://orcid.org/0000-0003-3658-1209)
- Morena Tremosini
- Cesare Faldini (ORCID: https://orcid.org/0000-0001-8152-4778)
Institutions
- Istituto Ortopedico Rizzoli (IT)
- University of Turin (IT)
- University of Bologna (IT)
Publication Details
- Journal
- Genes
- Published
- 2024-11-20
- DOI
- https://doi.org/10.3390/genes15111490
- Citations
- 2
- Primary Topic
- Osteoarthritis Treatment and Mechanisms
- Type
- article
- Field-Weighted Citation Impact
- 0.94