Summary The article originally titled “Human organoid model of PCH2a recapitulates brain region-specific pathology” shows for the first time how the pathology in certain brain regions in PCH2A can be…
Summary The aim of the study “Natural course of pontocerebellar hypoplasia type 2A” by Sánchez-Albisua et al. was to describe the natural course of PCH2 using a uniform group of…
Summary In their 1995 study “The syndrome of autosomal recessive pontocerebellar hypoplasia, microcephaly, and extrapyramidal dyskinesia (pontocerebellar hypoplasia type 2): Compiled data from 10 pedigrees”, Barth et al. collected data…