A child with a novel ACAN missense variant mimicking a septic arthritis

• Main Authors: Angelo Florio (Author), Riccardo Papa (Author), Roberta Caorsi (Author), Alessandro Consolaro (Author), Roberto Gastaldi (Author), Marco Gattorno (Author), Paolo Picco (Author)
• Formato: Livro
• Publicado em: BMC, 2019-11-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Abstract 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...