Fig. 3: SKOR2 pathogenic variant in patient 15. | Genetics in Medicine

Fig. 3: SKOR2 pathogenic variant in patient 15.

From: Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies

Fig. 3

a Pedigree of the family of patient 15 and segregation of the pathogenic p.Ser917* variant identified in SKOR2. P15 is indicated by filled symbol. b Brain posterior fossa of P15 showing peculiar vermian dysplasia (abnormal foliation, mainly in lobules IV–VIII: red arrow) consistent with the murine model described by Wang et al.33

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