| 1 | ACPS2, RAB23 |
| Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay. | |
| Jenkins D, Baynam G, De Catte L, Elcioglu N, Gabbett MT, Hudgins L, Hurst JA, Jehee FS, Oley C, Wilkie AO. | |
| Hum Mutat 32(4):E2069-78. doi: 10.1002/humu.21457. Epub 2011 Feb 8. 2011 | |
| 2 | ACPS2, RAB23 |
| RAB23 mutation in a large family from Comoros Islands with Carpenter syndrome. | |
| Alessandri JL, Dagoneau N, Laville JM, Baruteau J, Hébert JC, Cormier-Daire V. | |
| Am J Med Genet A 152A(4):982-6.PMID: 20358613 2010 | |
| 3 | RAB23, ACPS2 |
| RAB23 Mutations in Carpenter Syndrome Imply an Unexpected Role for Hedgehog Signaling in Cranial-Suture Development and Obesity. | |
| Jenkins D, Seelow D, Jehee FS, Perlyn CA, Alonso LG, Bueno DF, Donnai D, Josifiova D, Mathijssen IM, Morton JE, Orstavik KH, Sweeney E, Wall SA, Marsh JL, Nurnberg P, Passos-Bueno MR, Wilkie AO. | |
| Am J Hum Genet 80(6):1162-70. Epub 2007 Apr 18. 2007 | |