A Taiwanese Patient with Multiple Epiphyseal Dysplasia Type 1 was Found to have Novel Mutation of Cartilage Oligomeric Matrix Protein: A Case Report
COMPopathies, caused by COMP gene mutations, include multiple epiphyseal dysplasia type 1 (MED type 1) and pseudoachondroplasia, typically manifesting as short stature, joint pain, hypermobility, and gait disturbances. While clinical and radiographic features guide initial diagnosis, genetic testing...
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| Principais autores: | , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Wolters Kluwer Medknow Publications
2025-07-01
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| coleção: | Formosan Journal of Musculoskeletal Disorders |
| Assuntos: | |
| Acesso em linha: | https://journals.lww.com/10.4103/fjmd.FJMD-D-24-00040 |
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