Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss
AMPD2 缺失导致胼胝体完全发育不全、小脑桥脑发育不全和轴突性神经病变
期刊:Neurology-Genetics
影响因子:3
doi:10.1212/NXG.0000000000000014
Ashley P L Marsh, Vesna Lukic, Kate Pope, Catherine Bromhead, Rick Tankard, Monique M Ryan, Eppie M Yiu, Joe C H Sim, Martin B Delatycki, David J Amor, George McGillivray, Elliott H Sherr, Melanie Bahlo, Richard J Leventer, Paul J Lockhart
