1 | OIL1, P4HB |
Cole-Carpenter Syndrome Is Caused by a Heterozygous Missense Mutation in P4HB. | |
Rauch F, Fahiminiya S, Majewski J, Carrot-Zhang J, Boudko S, Glorieux F, Mort JS, Bächinger HP, Moffatt P. | |
Am J Hum Genet 96(3):425-31. doi: 10.1016/j.ajhg.2014.12.027. Epub 2015 Feb 12. 2015 | |
2 | OIL1 |
New case of Cole-Carpenter syndrome. | |
Amor DJ, Savarirayan R, Schneider AS, Bankier A. | |
Am J Med Genet 92(4):273-7. Review. 2000 | |