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A child with a novel ACAN missense variant mimicking a septic arthritis
Heterozygous mutations of the ACAN gene have been associated with a broad spectrum of non-lethal skeletal dysplasias, called Aggrecanopathies. We report a case of a child with severe inflammatory elbow involvement mimicking septic arthritis who carried the new ACAN missense variant c.6970 T > C,...
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| Publicado no: | Ital J Pediatr |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6868685/ https://ncbi.nlm.nih.gov/pubmed/31747937 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13052-019-0719-6 |
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