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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Detalles Bibliográficos
Autores principales: Florio, Angelo, Papa, Riccardo, Caorsi, Roberta, Consolaro, Alessandro, Gastaldi, Roberto, Gattorno, Marco, Picco, Paolo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6868685/
https://www.ncbi.nlm.nih.gov/pubmed/31747937
http://dx.doi.org/10.1186/s13052-019-0719-6

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