| 1 | CODAS, LONP1, MT-CO2 |
| CODAS Syndrome Is Associated with Mutations of LONP1, Encoding Mitochondrial AAA(+) Lon Protease. | |
| Strauss KA, Jinks RN, Puffenberger EG, Venkatesh S, Singh K, Cheng I, Mikita N, Thilagavathi J, Lee J, Sarafianos S, Benkert A, Koehler A, Zhu A, Trovillion V, McGlincy M, Morlet T, Deardorff M, Innes AM, Prasad C, Chudley AE, Lee IN, Suzuki CK. | |
| Am J Hum Genet 96(1):121-35. doi: 10.1016/j.ajhg.2014.12.003. 2015 | |
| 2 | CODAS, LONP1 |
| Fourth case of cerebral, ocular, dental, auricular, skeletal syndrome (CODAS), description of new features and molecular analysis. | |
| Marlin S, Ducou Le Pointe H, Le Merrer M, Portnoi MF, Chantot S, Jonard L, Mantel-Guiochon A, Siffroi JP, Garabedian EN, Denoyelle F. | |
| Am J Med Genet A 152A(6):1510-4. doi: 10.1002/ajmg.a.33242. 2010 | |