Fig. 3From: Serial magnetic resonance imaging changes of pseudotumor lesions in retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations: a case reportSanger sequencing of TREX1 gene in the family. The proband carried a heterozygous mutation of TREX1 gene [TREX1; NM_033629: c.741_742insGTCA (p.T249Sfs*14)] (red arrow) (a). The mother (b), aunt (c), and son (d) of the proband lacked the mutationBack to article page