Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma
PXDN 纯合突变可导致先天性白内障、角膜混浊和发育性青光眼
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2011.08.005
Kamron Khan, Adam Rudkin, David A Parry, Kathryn P Burdon, Martin McKibbin, Clare V Logan, Zakia I A Abdelhamed, James S Muecke, Narcis Fernandez-Fuentes, Kate J Laurie, Mike Shires, Rhys Fogarty, Ian M Carr, James A Poulter, Joanne E Morgan, Moin D Mohamed, Hussain Jafri, Yasmin Raashid, Ngy Meng,