Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia - further expansion of the phenotypic spectrum.
about
Emerging Mechanisms of Aminoacyl-tRNA Synthetase Mutations in Recessive and Dominant Human Disease.Glutathione as a Redox Biomarker in Mitochondrial Disease-Implications for Therapy.The role of tRNA synthetases in neurological and neuromuscular disorders.Distinct magnetic resonance imaging features in a patient with novel RARS2 mutations: A case report and review of the literature.Expanding spectrum of RARS2 gene disorders: Myoclonic epilepsy, mental retardation, spasticity, and extrapyramidal features.What's new in pontocerebellar hypoplasia? An update on genes and subtypes.Diagnostic value of partial exome sequencing in developmental disorders
P2860
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P2860
Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia - further expansion of the phenotypic spectrum.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
Novel homozygous RARS2 mutatio ...... on of the phenotypic spectrum.
@en
type
label
Novel homozygous RARS2 mutatio ...... on of the phenotypic spectrum.
@en
prefLabel
Novel homozygous RARS2 mutatio ...... on of the phenotypic spectrum.
@en
P2093
P2860
P1476
Novel homozygous RARS2 mutatio ...... on of the phenotypic spectrum.
@en
P2093
M Bartsakoulia
S C Grünert
W Schlötzer
P2860
P2888
P356
10.1186/S13023-016-0525-9
P577
2016-10-21T00:00:00Z
P6179
1043038194