1 | CFNS, FND1, GLI1, GLI3, KIF3A |
A primary cilia-dependent etiology for midline facial disorders. | |
Brugmann SA, Allen NC, James AW, Mekonnen Z, Madan E, Helms JA. | |
Hum Mol Genet 19(8):1577-92. Epub 2010 Jan 27.PMID: 20106874 2010 | |
2 | ALX3, FND1 |
Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene. | |
Twigg SR, Versnel SL, Nürnberg G, Lees MM, Bhat M, Hammond P, Hennekam RC, Hoogeboom AJ, Hurst JA, Johnson D, Robinson AA, Scambler PJ, Gerrelli D, Nürnberg P, Mathijssen IM, Wilkie AO. | |
Am J Hum Genet 84(5):698-705. Epub 2009 Apr 30. 2009 | |