| 1 | ACAN, FOD |
| A child with a novel ACAN missense variant mimicking a septic arthritis. | |
| Florio A, Papa R, Caorsi R, Consolaro A, Gastaldi R, Gattorno M, Picco P. | |
| Ital J Pediatr 45(1):148. doi: 10.1186/s13052-019-0719-6. 2019 | |
| 2 | ACAN, FOD |
| A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans. | |
| Stattin EL, Wiklund F, Lindblom K, Onnerfjord P, Jonsson BA, Tegner Y, Sasaki T, Struglics A, Lohmander S, Dahl N, Heinegård D, Aspberg A. | |
| Am J Hum Genet 86(2):126-37. Epub 2010 Feb 4.PMID: 20137779 2010 | |