Retinopathy and optic atrophy: Expanding the phenotypic spectrum of pathogenic variants in the AARS2 gene
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DOI: 10.1080/13816810.2017.1350723
Abstract: ABSTRACT Background: Optic atrophy may be the sequela of optic nerve injury due to any insult, including isolated and syndromic genetic diseases. Alanyl-tRNA synthetase 2 (AARS2) pathogenic variants have been reported to cause leukodystrophy with… read more here.
Keywords: pathogenic variants; variants aars2; optic atrophy; gene ... See more keywords