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Novel COL9A3 mutation in a family diagnosed with multiple epiphyseal dysplasia: a case report
BACKGROUND: Multiple epiphyseal dysplasia is a common skeletal dysplasia characterized by mild short stature, early-onset osteoarthritis mainly involving the hip and knee joints, and abnormally small and/or irregular epiphyses. Multiple epiphyseal dysplasia is clinically and genetically heterogeneou...
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| Publicado no: | BMC Musculoskelet Disord |
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| Main Authors: | , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2014
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4236474/ https://ncbi.nlm.nih.gov/pubmed/25381065 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2474-15-371 |
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