| 1 | CMDR, GJA1 |
| A Novel Autosomal Recessive GJA1 Missense Mutation Linked to Craniometaphyseal Dysplasia. | |
| Hu Y, Chen IP, de Almeida S, Tiziani V, Do Amaral CM, Gowrishankar K, Passos-Bueno MR, Reichenberger EJ. | |
| PLoS One 8(8):e73576. doi: 10.1371/journal.pone.0073576. 2013 | |
| 2 | CMDR, SCDO1 |
| Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia. | |
| Iughetti P, Alonso LG, Wilcox W, Alonso N, Passos-Bueno MR. | |
| Am J Med Genet 95(5):482-91. 2000 | |