| 1 | CSCF, MAP3K7 |
| Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome. | |
| Le Goff C, Rogers C, Le Goff W, Pinto G, Bonnet D, Chrabieh M, Alibeu O, Nistchke P, Munnich A, Picard C, Cormier-Daire V. | |
| Am J Hum Genet 99(2):407-13. doi: 10.1016/j.ajhg.2016.06.005. Epub 2016 Jul 14. 2016 | |
| 2 | CSCF |
| Postnatal growth retardation, facial dysmorphism, spondylocarpal synostosis, cardiac defect, and inner ear malformation (cardiospondylocarpofacial syndrome?)--a distinct syndrome? | |
| Sousa SB, Baujat G, Abadie V, Bonnet D, Sidi D, Munnich A, Krakow D, Cormier-Daire V. | |
| Am J Med Genet A 152A(3):539-46. doi: 10.1002/ajmg.a.33277. 2010 | |