Progressive pseudorheumatoid dysplasia in an Omani family: a case report
Background: Progressive pseudorheumatoid dysplasia (PPRD) is an inherited autosomal recessive musculoskeletal condition caused by mutations in the Cellular Communication Network Factor 6 (CCN6) gene. This causes a variety of clinical features such as short stature, genu varum, etc. Case Presentation...
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| Autors principals: | , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Discover STM Publishing Ltd
2023-02-01
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| Col·lecció: | Journal of Biochemical and Clinical Genetics |
| Matèries: | |
| Accés en línia: | https://www.jbcgenetics.com/?mno=142654 |
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