A child with a novel ACAN missense variant mimicking a septic arthritis
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...
Main Authors: | Angelo Florio, Riccardo Papa, Roberta Caorsi, Alessandro Consolaro, Roberto Gastaldi, Marco Gattorno, Paolo Picco |
---|---|
Format: | Article |
Language: | English |
Published: |
BMC
2019-11-01
|
Series: | Italian Journal of Pediatrics |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s13052-019-0719-6 |
Similar Items
-
Retrospective Diagnosis of a Novel ACAN Pathogenic Variant in a Family With Short Stature: A Case Report and Review of the Literature
by: Valentina Mancioppi, et al.
Published: (2021-08-01) -
GAGAUZ TÜRKÇESİNDE AÇAN EDATI İLE KURULMUŞ CÜMLELER
by: Nadejda CHİRLİ
Published: (2016-01-01) -
ARTHROSCOPIC TREATMENT OF ELBOW CONTRACTURE IN SPORTSMAN
by: L. A. Kuznetsov, et al.
Published: (2016-11-01) -
The effect of autologous adipose derived mesenchymal stem cell therapy in the treatment of a large osteochondral defect of the knee following unsuccessful surgical intervention of osteochondritis dissecans – a case study
by: Julien Freitag, et al.
Published: (2017-07-01) -
Clinical and genetic studies of three inherited skeletal disorders
by: Stattin, Eva-Lena
Published: (2009)