Variant in SCYL1 gene causes aberrant splicing in a family with cerebellar ataxia recurrent episodes of liver failure and growth retardation

摘要

Pedigree in the Jewish Ashkenazi family with variant c.459C>T. Open boxes are asymptomatic family members not tested for carrier status. Dotted boxes are carrier asymptomatic members. The shaded boxes are patients with symptomatic homozygous variants