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[Autosomal recessive heterocygote mutation of the RARS2 gene in a colombian patient with non- consanguineous parents].

Archivos argentinos de pediatria - 1 Feb 2022

Bendeck Joanna L, Villamizar Ives, Prieto Carolina, Celis Luis G

Abstract excerpt

The latest method of next-generation sequencing has allowed the characterization and identification of genetic variants associated to diverse pathologies. In this article, we present the case of female patient with a mutation of the RARS2 gene that encodes the enzyme for arginyl tRNA synthetase for coding of proteins. This genetic alteration manifests in pontocerebellar hypoplasia type 6, with a prevalence...

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PMID: 35068129
DOI: 10.5546/aap.2022.e39

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