| 1 | OPACS2, SMOC1 |
| Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome. | |
| Abouzeid H, Boisset G, Favez T, Youssef M, Marzouk I, Shakankiry N, Bayoumi N, Descombes P, Agosti C, Munier FL, Schorderet DF. | |
| Am J Hum Genet 88(1):92-8. Epub 2010 Dec 30.PMID: 21194680 2011 | |
| 2 | OPACS2, SMOC1 |
| SMOC1 is essential for ocular and limb development in humans and mice. | |
| Okada I, Hamanoue H, Terada K, Tohma T, Megarbane A, Chouery E, Abou-Ghoch J, Jalkh N, Cogulu O, Ozkinay F, Horie K, Takeda J, Furuichi T, Ikegawa S, Nishiyama K, Miyatake S, Nishimura A, Mizuguchi T, Niikawa N, Hirahara F, Kaname T, Yoshiura K, Tsurusaki Y, Doi H, Miyake N, Furukawa T, Matsumoto N, Saitsu H. | |
| Am J Hum Genet 88(1):30-41. Epub 2010 Dec 30.PMID: 21194678 2011 | |