Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss

Autor: Sherr, Elliott, Marsh, APL, Lukic, V, Pope, K, Bromhead, C, Tankard, R, Ryan, MM, Yiu, EM, Sim, JCH, Delatycki, MB, Amor, DJ

Publikováno v: Sherr, Elliott; Marsh, APL; Lukic, V; Pope, K; Bromhead, C; Tankard, R; et al.(2015). Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss.. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/4h72s8bj

To determine the molecular basis of a severe neurologic disorder in a large consanguineous family with complete agenesis of the corpus callosum (ACC), pontocerebellar hypoplasia (PCH), and peripheral axonal neuropathy.Assessment included clinical eva

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::264fb19d12e52c125ed78313142591cc
http://www.escholarship.org/uc/item/4h72s8bj