Condition: Pontocerebellar Hypoplasia Type 6


rs757743894 in RARS2 gene and Pontocerebellar Hypoplasia Type 6 PMID 22086604 2012 Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2.

PMID 27061686 2016 RARS2 mutations in a sibship with infantile spasms.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.