Pontocerebellar hypoplasia
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference46 articles.
1. Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy;Agamy;Am J Hum Genet,2010
2. Fatal infantile encephalopathy with olivopontocerebellar hypoplasia and micrencephaly;Albrecht;Acta Neuropathol,1993
3. Early pontocerebellar hypoplasia with vanishing testes: A new syndrome;Anderson;Am J Med Genet Part A,2011
4. Pontocerebellar hypoplasias: An overview of a group of inherited neurodegenerative disorders with fetal onset;Barth;Brain Dev,1993
5. Pontocerebellar hypoplasia type 2. A neuropathological update;Barth;Acta Neuropathol,2007
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