PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder
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DOI: 10.1038/jhg.2016.163
Abstract: Here we present four unrelated families with six individuals that have infantile-onset developmental delay/regression and epilepsy. Whole-exome sequencing revealed compound heterozygous mutations, c.[283G>A];[607G>A] in a gene encoding prolyl-tRNA synthetase (PARS2) in one family. Two pairs… read more here.
Keywords: nars2 mutations; infantile onset; neurodegenerative disorder; pars2 nars2 ... See more keywords