Associated Papers
Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.
Kortüm F et al.
European Journal of Human Genetics : Ejhg, 2018
A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9.
Marsh AP et al.
American Journal of Medical Genetics. Part A, 2017
Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss.
Marsh AP et al.
Neurology. Genetics, 2015
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