Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly
Sign Up to like & getrecommendations! Published in 2021 at "Neuron"
DOI: 10.1016/j.neuron.2020.10.035
Abstract: Autosomal-recessive cerebellar hypoplasia and ataxia constitute a group of heterogeneous brain disorders caused by disruption of several fundamental cellular processes. Here, we identified 10 families showing a neurodegenerative condition involving pontocerebellar hypoplasia with microcephaly (PCHM).… read more here.
Keywords: hypoplasia microcephaly; pontocerebellar hypoplasia; ppil1 prp17; hypoplasia ... See more keywords