A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9. Issue 3 (7th February 2017) - Marsh, Ashley P. L.; Yap, Patrick; Tan, Tiong; Pope, Kate; White, Susan M.; Chong, Belinda; Mcgillivray, George; Boys, Amber; Stephenson, Sarah E. M.; Leventer, Richard J.; Stark, Zornitza; Lockhart, Paul J.