Retinopathy and optic atrophy: Expanding the phenotypic spectrum of pathogenic variants in the AARS2 gene.

Jason H PeragalloStephanie KellerMarjo S van der KnaapBruno P SoaresSuma P Shankar

Published in: Ophthalmic genetics (2017)

Missense variants in the AARS2 gene are the likely cause of the retinopathy and optic atrophy in this patient. This finding expands the phenotypic spectrum of the AARS2 gene.

Keyphrases

copy number
genome wide
genome wide identification
gene expression
intellectual disability
autism spectrum disorder
optic nerve
transcription factor