| 1 | LCCSR, NEK9 |
| Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects. | |
| Casey JP, Brennan K, Scheidel N, McGettigan P, Lavin PT, Carter S, Ennis S, Dorkins H, Ghali N, Blacque OE, Mc Gee MM, Murphy H, Lynch SA. | |
| Hum Mol Genet um Mol Genet. 2016 Feb 21. pii: ddw054. [Epub ahead of print] 2016 | |