Novel mutations in TSEN54 in pontocerebellar hypoplasia type 2.
about
Pontocerebellar hypoplasia.Consensus Paper: Cerebellar Development.La Deletion from Mouse Brain Alters Pre-tRNA Metabolism and Accumulation of Pre-5.8S rRNA, with Neuron Death and Reactive Astrocytosis.TSEN54 Gene-Related Pontocerebellar Hypoplasia Type 2 Could Mimic Dyskinetic Cerebral Palsy with Severe Psychomotor Retardation.
P2860
Novel mutations in TSEN54 in pontocerebellar hypoplasia type 2.
description
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name
Novel mutations in TSEN54 in pontocerebellar hypoplasia type 2.
@en
type
label
Novel mutations in TSEN54 in pontocerebellar hypoplasia type 2.
@en
prefLabel
Novel mutations in TSEN54 in pontocerebellar hypoplasia type 2.
@en
P2093
P2860
P50
P356
P1476
Novel mutations in TSEN54 in pontocerebellar hypoplasia type 2
@en
P2093
Alessandro Romano
Andrea Guzzetta
Chiara Pantaleoni
Denise Cassandrini
Enrico Alfei
Stefano D'Arrigo
P2860
P304
P356
10.1177/0883073812470002
P577
2013-01-09T00:00:00Z