A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9

Am J Med Genet A. 2017 Mar;173(3):820-823. doi: 10.1002/ajmg.a.38076. Epub 2017 Feb 7.

Ashley P L Marsh^{1

2}, Patrick Yap^{3

4}, Tiong Tan³, Kate Pope¹, Susan M White^{2

3}, Belinda Chong³, George Mcgillivray³, Amber Boys³, Sarah E M Stephenson^{1

2}, Richard J Leventer^{2

5

6}, Zornitza Stark³, Paul J Lockhart^{1

2}

¹ Bruce Lefroy Centre For Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.
² Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.
³ Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.
⁴ Genetic Health Service New Zealand (Northern Hub), Auckland City Hospital, Auckland, New Zealand.
⁵ Neuroscience Research Group, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.
⁶ Department of Neurology, University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia.

No abstract available

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